Allele Registry

SUSPENSION NOTICE:2024-08-07T19:00:00-0500 — 2024-10-16T08:00:00-0500
New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
This allows us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.
This migration is underway but taking longer than originally estimated.

Canonical Allele Identifier: PA658669601

Gene: CACNA1A HGNC NCBI

Linked Data

ClinVar Variation Id: 446912

ClinVar RCV Id: RCV000516858 RCV001203503 RCV001731742

ClinVar Variation Id: 452320

ClinVar RCV Id: RCV000519819

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000059.3:p.Gly949Arg	CA9240462 NM_000068.4:c.2845G>A CA404342625 NM_000068.4:c.2845G>C