Canonical Allele Identifier: PA2826578013
Gene: SACS HGNC NCBI

Linked Data

ClinVar Variation Id: 448229
ClinVar RCV Id: RCV000518073 RCV000560872 RCV001113533
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001264984.1:p.Arg3037Cys
CA6910606
NM_001278055.2:c.9109C>T