Allele Registry

Canonical Allele Identifier: PA2827007387

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000165847

RCV000531841

RCV001548583

RCV003995458

ClinVar Variation:

186281

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305758.1:p.Arg579His	CA016151 NM_001318829.2:c.1736G>A