Canonical Allele Identifier: PA658664645
Gene: SACS HGNC NCBI

Linked Data

ClinVar Variation Id: 448220
ClinVar RCV Id: RCV000517402

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_055178.3:p.Leu2588His
CA387518295
NM_014363.6:c.7763T>A