Canonical Allele Identifier: PA2826577808
Gene: SACS HGNC NCBI

Linked Data

ClinVar Variation Id: 458276
ClinVar RCV Id: RCV000530318 RCV001274928 RCV002525291
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001264984.1:p.Arg2751His
CA6910731
NM_001278055.2:c.8252G>A