Canonical Allele Identifier: PA2826578868
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_001264984.1:p.Asp4199Asn
CA6910032
NM_001278055.2:c.12595G>A