Canonical Allele Identifier: PA2741944979
Gene: SACS HGNC NCBI

Linked Data

ClinVar Variation Id: 2724848
ClinVar RCV Id: RCV003588082
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_055178.3:p.Val1863Met
CA246658994
NM_014363.6:c.5587G>A