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: PA2825720597

Gene: CACNA1C HGNC NCBI

Linked Data

ClinVar Variation Id: 17635

ClinVar RCV Id: RCV000019202 RCV000058283

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001123310.1:p.Ala39Val	CA264810 NM_001129838.2:c.116C>T