Canonical Allele Identifier: PA2826578159
Gene: SACS HGNC NCBI

Linked Data

ClinVar Variation Id: 130199
ClinVar RCV Id: RCV000118228 RCV000366246 RCV000676354 RCV001517094 RCV001847716
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001264984.1:p.Val3222Ala
CA155036
NM_001278055.2:c.9665T>C