Allele Registry

Canonical Allele Identifier: PA645432536

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000458453

RCV002451086

RCV004000686

ClinVar Variation:

405987

HGVS (amino-acid)	Matching Registered Transcripts
NP_000539.2:p.Val825Leu	CA039144 NM_000548.5:c.2473G>C