Canonical Allele Identifier: PA2741944971
Gene: SACS HGNC NCBI

Linked Data

ClinVar Variation Id: 2740611
ClinVar RCV Id: RCV003589107

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_055178.3:p.Cys1815Arg
CA246659150
NM_014363.6:c.5443T>C