Allele Registry

Canonical Allele Identifier: PA194340

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000165847

RCV000531841

RCV001548583

RCV003995458

ClinVar Variation:

186281

HGVS (amino-acid)	Matching Registered Transcripts
NP_000539.2:p.Arg628His	CA016151 NM_000548.5:c.1883G>A