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: PA2825012516

Gene: CACNA1A HGNC NCBI

Linked Data

ClinVar Variation Id: 379829

ClinVar RCV Id: RCV000433673

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000059.3:p.Phe1370Ile	CA16608915 NM_000068.4:c.4108T>A