Canonical Allele Identifier: PA2741945225
Gene: SACS HGNC NCBI

Linked Data

ClinVar Variation Id: 2844326
ClinVar RCV Id: RCV003752194
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_055178.3:p.Ile3148Thr
CA6910620
NM_014363.6:c.9443T>C