Allele Registry

Canonical Allele Identifier: PA2828414116

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000230897

RCV003165606

RCV003998826

ClinVar Variation:

238040

HGVS (amino-acid)	Matching Registered Transcripts
NP_001357333.1:p.Glu1307Lys	CA10583329 NM_001370404.1:c.3919G>A