Canonical Allele Identifier: PA658831515
Gene: SACS HGNC NCBI

Linked Data

ClinVar Variation Id: 549951
ClinVar RCV Id: RCV000664537
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_055178.3:p.Arg474Cys
CA6911914
NM_014363.6:c.1420C>T