Canonical Allele Identifier: PA2826578228
Gene: SACS HGNC NCBI

Linked Data

ClinVar Variation Id: 968056
ClinVar RCV Id: RCV001243104 RCV001829014
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001264984.1:p.His3333Tyr
CA6910453
NM_001278055.2:c.9997C>T