Canonical Allele Identifier: PA2580354554
Gene: SACS HGNC NCBI

Linked Data

ClinVar Variation Id: 2263531
ClinVar RCV Id: RCV002797969
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_055178.3:p.Leu2047Ile
CA387523818
NM_014363.6:c.6139C>A