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: PA2826104123

Gene: CACNA1A HGNC NCBI

Linked Data

ClinVar Variation Id: 8489

ClinVar RCV Id: RCV000009011 RCV001533160

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001167551.1:p.Val714Ala	CA254418 NM_001174080.2:c.2141T>C