Canonical Allele Identifier: PA2826577079
Gene: SACS HGNC NCBI

Linked Data

ClinVar Variation Id: 448208
ClinVar RCV Id: RCV001276941 RCV002473033 RCV002525073 RCV002527519
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001264984.1:p.Trp1714Cys
CA6911227
NM_001278055.2:c.5142G>C
CA387525353
NM_001278055.2:c.5142G>T