Allele Registry

Canonical Allele Identifier: PA916023688

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000165847

RCV000531841

RCV001548583

RCV003995458

ClinVar Variation:

186281

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305761.1:p.Arg639His	CA016151 NM_001318832.2:c.1916G>A