Canonical Allele Identifier: PA2826577044
Gene: SACS HGNC NCBI

Linked Data

ClinVar Variation Id: 1343993
ClinVar RCV Id: RCV001847538 RCV003588773
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001264984.1:p.Thr1670Met
CA246659130
NM_001278055.2:c.5009C>T