Canonical Allele Identifier: PA2826579006
Gene: SACS HGNC NCBI

Linked Data

ClinVar Variation Id: 1343647
ClinVar RCV Id: RCV001844664 RCV002543324 RCV003163995 RCV003339758
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001264984.1:p.Leu4394Met
CA6909936
NM_001278055.2:c.13180T>A