Canonical Allele Identifier: PA2826578475
Gene: SACS HGNC NCBI

Linked Data

ClinVar Variation Id: 311506
ClinVar RCV Id: RCV000350663 RCV002520863 RCV004021564
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001264984.1:p.Trp3656Cys
CA10643107
NM_001278055.2:c.10968G>T
CA387510054
NM_001278055.2:c.10968G>C