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: PA2826576221

Gene: SACS HGNC NCBI

Linked Data

ClinVar Variation Id: 1132189

ClinVar RCV Id: RCV001466352

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001264984.1:p.Phe430Leu	CA6911858 NM_001278055.2:c.1290C>G CA6911859 NM_001278055.2:c.1288T>C CA387546937 NM_001278055.2:c.1290C>A