Canonical Allele Identifier: PA645437713
Gene: SACS HGNC NCBI

Linked Data

ClinVar Variation Id: 373337
ClinVar RCV Id: RCV000413289 RCV001274915 RCV002523949
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_055178.3:p.Ser4513Asn
CA6909946
NM_014363.6:c.13538G>A