Canonical Allele Identifier: PA2826577155
Gene: SACS HGNC NCBI

Linked Data

ClinVar Variation Id: 2571999
ClinVar RCV Id: RCV003313708
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001264984.1:p.Gly1815Arg
CA6911180
NM_001278055.2:c.5443G>A
CA246658661
NM_001278055.2:c.5443G>C