Allele Registry

UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.

Canonical Allele Identifier: PA2825448927

Gene: ACVRL1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1763210

ClinVar RCV Id: RCV002434870

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001070869.1:p.His280Arg	CA384900505 NM_001077401.2:c.839A>G