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: PA2499294856

Gene: CAV3 HGNC NCBI

Linked Data

ClinVar Variation Id: 1062784

ClinVar RCV Id: RCV001372540

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_203123.1:p.Val67Ile	CA351663277 NM_033337.3:c.199G>A