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: PA915994554

Gene: CASR HGNC NCBI

Linked Data

ClinVar Variation Id: 8324

ClinVar RCV Id: RCV000008825

ClinVar Variation Id: 2630404

ClinVar RCV Id: RCV004554902

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001171536.2:p.Asn118Lys	CA119487 NM_001178065.2:c.354C>A CA354362715 NM_001178065.2:c.354C>G