Canonical Allele Identifier: PA2580354872
Gene: SACS HGNC NCBI

Linked Data

ClinVar Variation Id: 2191587
ClinVar RCV Id: RCV002632895
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_055178.3:p.Leu3500Phe
CA6910438
NM_014363.6:c.10498C>T