Allele Registry

Canonical Allele Identifier: PA2828420495

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000530101

RCV000554219

RCV001022193

RCV001532308

RCV002330899

RCV003318590

ClinVar Variation:

468075

468076

HGVS (amino-acid)	Matching Registered Transcripts
NP_001357334.1:p.Gly1382Arg	CA050746 NM_001370405.1:c.4144G>A CA394300730 NM_001370405.1:c.4144G>C