Canonical Allele Identifier: PA2580354804
Gene: SACS HGNC NCBI

Linked Data

ClinVar Variation Id: 2154137
ClinVar RCV Id: RCV003069124
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_055178.3:p.His3130Arg
CA6910627
NM_014363.6:c.9389A>G