Canonical Allele Identifier: PA645437704
Gene: SACS HGNC NCBI

Linked Data

ClinVar Variation Id: 290508
ClinVar RCV Id: RCV000337604 RCV000765117 RCV002522028 RCV004021306
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_055178.3:p.Asp4346Asn
CA6910032
NM_014363.6:c.13036G>A