Allele Registry

Canonical Allele Identifier: PA2828094241

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV002716230

ClinVar Variation:

1963872

HGVS (amino-acid)	Matching Registered Transcripts
NP_001350457.1:p.Glu1376Gln	CA394301341 NM_001363528.2:c.4126G>C