Canonical Allele Identifier: PA2826578177
Gene: SACS HGNC NCBI

Linked Data

ClinVar Variation Id: 2919465
ClinVar RCV Id: RCV003751591
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001264984.1:p.Leu3251Phe
CA387512752
NM_001278055.2:c.9753G>T
CA387512753
NM_001278055.2:c.9753G>C