Allele Registry

Canonical Allele Identifier: PA2828414418

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV002716230

ClinVar Variation:

1963872

HGVS (amino-acid)	Matching Registered Transcripts
NP_001357333.1:p.Glu1398Gln	CA394301341 NM_001370404.1:c.4192G>C