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: PA658802272

Gene: ACTA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 521671

ClinVar RCV Id: RCV000622532

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001091.1:p.Ile73Ser	CA345150606 NM_001100.4:c.218T>G