Canonical Allele Identifier: PA2580354619
Gene: SACS HGNC NCBI

Linked Data

ClinVar Variation Id: 1704567
ClinVar RCV Id: RCV002282894 RCV003289498 RCV003096343
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_055178.3:p.Thr2388Ile
CA6910962
NM_014363.6:c.7163C>T