Canonical Allele Identifier: PA2826577537
Gene: SACS HGNC NCBI

Linked Data

ClinVar Variation Id: 1433600
ClinVar RCV Id: RCV001946098
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001264984.1:p.Lys2330Asn
CA6910910
NM_001278055.2:c.6990G>C
CA387519172
NM_001278055.2:c.6990G>T