Canonical Allele Identifier: PA916008720
Gene: SACS HGNC NCBI

Linked Data

ClinVar Variation Id: 240899
ClinVar RCV Id: RCV000232090 RCV000988965
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001264984.1:p.Leu984Phe
CA6911531
NM_001278055.2:c.2950C>T