Allele Registry

Canonical Allele Identifier: PA2828421235

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000371761

RCV000839227

RCV001023201

RCV001079540

RCV004537797

ClinVar Variation:

318334

HGVS (amino-acid)	Matching Registered Transcripts
NP_001357334.1:p.Val1587Met	CA10648023 NM_001370405.1:c.4759G>A