Canonical Allele Identifier: PA2826578886
Gene: SACS HGNC NCBI

Linked Data

ClinVar Variation Id: 1349714
ClinVar RCV Id: RCV002039215
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001264984.1:p.Arg4227Ser
CA387505946
NM_001278055.2:c.12681G>T
CA387505947
NM_001278055.2:c.12681G>C