Canonical Allele Identifier: PA2826577411
Gene: SACS HGNC NCBI

Linked Data

ClinVar Variation Id: 586441
ClinVar RCV Id: RCV000712987 RCV001825425
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001264984.1:p.Glu2184Asp
CA6910986
NM_001278055.2:c.6552A>T
CA387520287
NM_001278055.2:c.6552A>C