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: PA2827338548

Gene: CAST HGNC NCBI

Linked Data

ClinVar Variation Id: 2394492

ClinVar RCV Id: RCV002738866

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001317560.1:p.Phe517Leu	CA3351498 NM_001330631.2:c.1549T>C CA360484871 NM_001330631.2:c.1551T>A CA360484872 NM_001330631.2:c.1551T>G