Resolve HGVS to canonical allele ids

One batched POST. The response comes back in input order.

Usage

clingen_alleles(hgvs, throttle = CLINGEN_THROTTLE, ...)

Arguments

hgvs

HGVS strings.

throttle

A throttle spec. Defaults to the documented 3 per second.

...

Passed to biohttp::perform() indirectly through the request.

Value

A biohttp envelope whose data is the tibble described in clingen_parse_allele().

References

Pawliczek et al. (2018). ClinGen Allele Registry links information about genetic variants. Human Mutation 39(11), 1690-1701. doi:10.1002/humu.23637

Service documentation: https://reg.clinicalgenome.org/

Examples

# \donttest{
biohttp::body_or_null(clingen_alleles("NM_000546.6:c.215C>G"))
#> # A tibble: 1 × 12
#>   resolved caid     reason rsid      clinvar_allele_id clinvar_variation_id
#>   <lgl>    <chr>    <chr>  <chr>                 <int>                <int>
#> 1 TRUE     CA000072 NA     rs1042522             27390                12351
#> # ℹ 6 more variables: myvariant_hg38 <chr>, chrom <chr>, pos <int>, ref <chr>,
#> #   alt <chr>, title <chr>
# }