Canonical Allele Identifier: PA2580354821
Gene: SACS HGNC NCBI

Linked Data

ClinVar Variation Id: 1983221
ClinVar RCV Id: RCV002770145
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_055178.3:p.Thr3228Ile
CA387513895
NM_014363.6:c.9683C>T