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: PA2825723975

Gene: CACNA1C HGNC NCBI

Linked Data

ClinVar Variation Id: 191427

ClinVar RCV Id: RCV000171619 RCV000226828 RCV000617712 RCV000855639 RCV000852446 RCV000988770 RCV002478546

ClinVar Variation Id: 842047

ClinVar RCV Id: RCV001044393 RCV002348367

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001123311.1:p.Gly1917Arg	CA236625 NM_001129839.2:c.5749G>C CA383382645 NM_001129839.2:c.5749G>A