Allele Registry

Canonical Allele Identifier: PA263074

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000043283

RCV000537246

RCV003162359

ClinVar Variation:

50015

HGVS (amino-acid)	Matching Registered Transcripts
NP_000539.2:p.Arg1240Cys	CA019506 NM_000548.5:c.3718C>T