Allele Registry

Canonical Allele Identifier: PA645433019

Gene: TSC2 HGNC NCBI

ClinVar Allele:

242269

ClinVar RCV:

RCV000230846

RCV001018163

RCV001551091

RCV003998818

ClinVar Variation:

238007

HGVS (amino-acid)	Matching Registered Transcripts
NP_000539.2:p.Gln1010Glu	CA044006 NM_000548.5:c.3028C>G