Canonical Allele Identifier: PA2573090627
Gene: SACS HGNC NCBI

Linked Data

ClinVar Variation Id: 1343996
ClinVar RCV Id: RCV001847541 RCV002543363
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_055178.3:p.Ile2126Thr
CA246658149
NM_014363.6:c.6377T>C