Canonical Allele Identifier: PA1139732248
Gene: SACS HGNC NCBI

Linked Data

ClinVar Variation Id: 946482
ClinVar RCV Id: RCV001217357 RCV001828724
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_055178.3:p.Thr4167Ile
CA6910139
NM_014363.6:c.12500C>T