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: PA215214

Gene: CAV3 HGNC NCBI

Linked Data

ClinVar Variation Id: 31742

ClinVar RCV Id: RCV000024428

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_203123.1:p.Val103_Val104del	CA215212 NM_033337.3:c.307_312del