Allele Registry

Canonical Allele Identifier: PA2828420554

Gene: TSC2 HGNC NCBI

ClinVar Allele:

59287

ClinVar RCV:

RCV000043392

RCV000536583

RCV001022298

RCV004537180

ClinVar Variation:

50125

HGVS (amino-acid)	Matching Registered Transcripts
NP_001357334.1:p.Glu1399Lys	CA020286 NM_001370405.1:c.4195G>A