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: PA2826578025

Gene: SACS HGNC NCBI

Linked Data

ClinVar Variation Id: 1806990

ClinVar RCV Id: RCV002474419

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001264984.1:p.Leu3054Phe	CA387514067 NM_001278055.2:c.9162G>T CA387514068 NM_001278055.2:c.9162G>C