Canonical Allele Identifier: PA2580354620
Gene: SACS HGNC NCBI

Linked Data

ClinVar Variation Id: 2056994
ClinVar RCV Id: RCV002914751
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_055178.3:p.Arg2392Lys
CA6910959
NM_014363.6:c.7175G>A