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: PA2825597469

Gene: CACNA1A HGNC NCBI

Linked Data

ClinVar Variation Id: 1803511

ClinVar RCV Id: RCV002467181

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001120694.1:p.Arg1345Leu	CA404340015 NM_001127222.2:c.4034G>T