Canonical Allele Identifier: PA1139730991
Gene: SACS HGNC NCBI

Linked Data

ClinVar Variation Id: 856322
ClinVar RCV Id: RCV001061759
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_055178.3:p.Leu2227Met
CA387520979
NM_014363.6:c.6679T>A