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: PA2825597480

Gene: CACNA1A HGNC NCBI

Linked Data

ClinVar Variation Id: 421023

ClinVar RCV Id: RCV000486810 RCV003766687

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Transcript change
NP_001120694.1:p.Arg1348Trp