Allele Registry

Canonical Allele Identifier: PA263165

Gene: TSC2 HGNC NCBI

ClinVar Allele:

59287

ClinVar RCV:

RCV000043392

RCV000536583

RCV001022298

RCV004537180

ClinVar Variation:

50125

HGVS (amino-acid)	Matching Registered Transcripts
NP_000539.2:p.Glu1442Lys	CA020286 NM_000548.5:c.4324G>A