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: PA2826105541

Gene: CACNA1A HGNC NCBI

Linked Data

ClinVar Variation Id: 1703758

ClinVar RCV Id: RCV002280918

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001167551.1:p.Phe1399Leu	CA404339659 NM_001174080.2:c.4197C>G CA404339660 NM_001174080.2:c.4197C>A CA404339665 NM_001174080.2:c.4195T>C