Canonical Allele Identifier: PA2826577018
Gene: SACS HGNC NCBI

Linked Data

ClinVar Variation Id: 1972164
ClinVar RCV Id: RCV002745977
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001264984.1:p.Asp1629Glu
CA387525910
NM_001278055.2:c.4887T>A
CA387525911
NM_001278055.2:c.4887T>G