Canonical Allele Identifier: PA2826577123
Gene: SACS HGNC NCBI

Linked Data

ClinVar Variation Id: 444312
ClinVar RCV Id: RCV000513129 RCV001275193 RCV002527402
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001264984.1:p.Thr1764Met
CA6911204
NM_001278055.2:c.5291C>T