Canonical Allele Identifier: PA658664621
Gene: SACS HGNC NCBI

Linked Data

ClinVar Variation Id: 448216
ClinVar RCV Id: RCV000518764

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_055178.3:p.Leu2189Val
CA6911062
NM_014363.6:c.6565T>G