Allele Registry

Canonical Allele Identifier: PA645433838

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000230897

RCV003165606

RCV003998826

ClinVar Variation:

238040

HGVS (amino-acid)	Matching Registered Transcripts
NP_000539.2:p.Glu1351Lys	CA10583329 NM_000548.5:c.4051G>A