Allele Registry

Canonical Allele Identifier: PA2829980306

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000230897

RCV003165606

RCV003998826

ClinVar Variation:

238040

HGVS (amino-acid)	Matching Registered Transcripts
NP_066399.2:p.Glu1308Lys	CA10583329 NM_021055.3:c.3922G>A