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: PA2825672772

Gene: CACNA1D HGNC NCBI

Linked Data

ClinVar Variation Id: 2633934

ClinVar RCV Id: RCV004531660

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001122312.1:p.His1789Gln	CA353251700 NM_001128840.2:c.5367C>A CA353251702 NM_001128840.2:c.5367C>G