Canonical Allele Identifier: PA2580354532
Gene: SACS HGNC NCBI

Linked Data

ClinVar Variation Id: 2116842
ClinVar RCV Id: RCV003027440
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_055178.3:p.Glu1974Lys
CA387524286
NM_014363.6:c.5920G>A