Allele Registry

Canonical Allele Identifier: PA2827010875

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000415290

RCV000466469

RCV001197195

RCV002285328

RCV002374622

ClinVar Variation:

374159

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305758.1:p.Val247Met	CA16043501 NM_001318829.2:c.739G>A