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: PA301314

Gene: CACNA1C HGNC NCBI

Linked Data

ClinVar Variation Id: 190642

ClinVar RCV Id: RCV000170780 RCV000232889 RCV002287377 RCV002250585 RCV002399602

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001123302.2:p.Arg518Cys	CA301308 NM_001129830.3:c.1552C>T