Allele Registry

Canonical Allele Identifier: PA916023919

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000458453

RCV002451086

RCV004000686

ClinVar Variation:

405987

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305761.1:p.Val836Leu	CA039144 NM_001318832.2:c.2506G>C