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: PA2826577031

Gene: SACS HGNC NCBI

Linked Data

ClinVar Variation Id: 1343992

ClinVar RCV Id: RCV001847537

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001264984.1:p.Met1648Ile	CA387525785 NM_001278055.2:c.4944G>A CA387525786 NM_001278055.2:c.4944G>C CA387525787 NM_001278055.2:c.4944G>T