Canonical Allele Identifier: PA916014103
Gene: SACS HGNC NCBI

Linked Data

ClinVar Variation Id: 806985
ClinVar RCV Id: RCV000995034 RCV001111639 RCV002550670
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_055178.3:p.Ala2581Val
CA246656617
NM_014363.6:c.7742C>T