Canonical Allele Identifier: PA645437225
Gene: SACS HGNC NCBI

Linked Data

ClinVar Variation Id: 311565
ClinVar RCV Id: RCV000333051 RCV001848107 RCV002472984 RCV002520871
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_055178.3:p.Leu407Ile
CA6911950
NM_014363.6:c.1219C>A