Canonical Allele Identifier: PA2826578196
Gene: SACS HGNC NCBI

Linked Data

ClinVar Variation Id: 286521
ClinVar RCV Id: RCV000329092 RCV000327882 RCV001082514 RCV003967757
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001264984.1:p.Lys3278Arg
CA6910476
NM_001278055.2:c.9833A>G