Canonical Allele Identifier: PA2580354908
Gene: SACS HGNC NCBI

Linked Data

ClinVar Variation Id: 2194663
ClinVar RCV Id: RCV002647476 RCV003485820
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_055178.3:p.Pro3689Leu
CA6910343
NM_014363.6:c.11066C>T