Allele Registry

SUSPENSION NOTICE:2024-08-07T19:00:00-0500 — 2024-09-25T08:00:00-0500
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.

Canonical Allele Identifier: PA645416113

Gene: CACNA1S HGNC NCBI

Linked Data

ClinVar Variation Id: 254847

ClinVar RCV Id: RCV000242685 RCV000311084 RCV001514823 RCV003454755 RCV003458381 RCV003454756

ClinVar Variation Id: 1591138

ClinVar RCV Id: RCV002103980

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000060.2:p.Leu1800Ser	CA083847 NM_000069.3:c.5399T>C CA2573131456 NM_000069.3:c.5399_5400delinsCA