Canonical Allele Identifier: PA2826577465
Gene: SACS HGNC NCBI

Linked Data

ClinVar Variation Id: 1343648
ClinVar RCV Id: RCV001844665
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001264984.1:p.Thr2249Ser
CA387519850
NM_001278055.2:c.6746C>G
CA387519852
NM_001278055.2:c.6745A>T