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: PA1139694131

Gene: CASR HGNC NCBI

Linked Data

ClinVar Variation Id: 853832

ClinVar RCV Id: RCV001058726

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001171536.2:p.Phe522Leu	CA2569679 NM_001178065.2:c.1564T>C CA2569680 NM_001178065.2:c.1566C>A CA354155455 NM_001178065.2:c.1566C>G