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: PA2573282695

Gene: CACNA1A HGNC NCBI

Linked Data

ClinVar Variation Id: 1388023

ClinVar RCV Id: RCV001884364

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_075461.2:p.Gln940His	CA404342673 NM_023035.3:c.2820G>T CA404342674 NM_023035.3:c.2820G>C