Canonical Allele Identifier: PA2829764151
Gene: SACS HGNC NCBI

Linked Data

ClinVar Variation Id: 3157480
ClinVar RCV Id: RCV004447323
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_055178.3:p.His1769Tyr
CA387525961
NM_014363.6:c.5305C>T