Canonical Allele Identifier: PA2741945001
Gene: SACS HGNC NCBI

Linked Data

ClinVar Variation Id: 2683226
ClinVar RCV Id: RCV003482093

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_055178.3:p.Asp2003Ala
CA387524099
NM_014363.6:c.6008A>C