Allele Registry

Canonical Allele Identifier: PA645435230

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000371761

RCV000839227

RCV001023201

RCV001079540

RCV004537797

ClinVar Variation:

318334

HGVS (amino-acid)	Matching Registered Transcripts
NP_000539.2:p.Val1630Met	CA10648023 NM_000548.5:c.4888G>A