Canonical Allele Identifier: PA916014058
Gene: SACS HGNC NCBI

Linked Data

ClinVar Variation Id: 650551
ClinVar RCV Id: RCV000805719 RCV001287906 RCV001275192
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_055178.3:p.Glu2117Lys
CA6911096
NM_014363.6:c.6349G>A