Canonical Allele Identifier: PA2828412138
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 186667
ClinVar RCV Id: RCV000166299 RCV000469825 RCV001589035
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001357333.1:p.Arg718His
CA016838
NM_001370404.1:c.2153G>A