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: PA254498

Gene: CACNA1A HGNC NCBI

Linked Data

ClinVar Variation Id: 8513

ClinVar RCV Id: RCV000009039 RCV000516653

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001120694.1:p.Arg1345Gln	CA254496 NM_001127222.2:c.4034G>A