Canonical Allele Identifier: PA2827020249
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 49486
ClinVar RCV Id: RCV000042746 RCV001232925
ClinVar Variation Id: 65278
ClinVar RCV Id: RCV000055499 RCV004537245
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305761.1:p.Gln1498His
CA020854
NM_001318832.2:c.4494G>C
CA020857
NM_001318832.2:c.4494G>T