Allele Registry

Canonical Allele Identifier: PA2827001869

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000165847

RCV000531841

RCV001548583

RCV003995458

ClinVar Variation:

186281

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305756.1:p.Arg591His	CA016151 NM_001318827.2:c.1772G>A