Canonical Allele Identifier: PA2826577437
Gene: SACS HGNC NCBI

Linked Data

ClinVar Variation Id: 569972
ClinVar RCV Id: RCV000690739 RCV001275189 RCV002547157
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001264984.1:p.Ala2220Val
CA6910971
NM_001278055.2:c.6659C>T