Allele Registry

Canonical Allele Identifier: PA2828094494

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000167342

RCV000535938

RCV000568343

RCV001230620

RCV001753574

ClinVar Variation:

187598

468097

HGVS (amino-acid)	Matching Registered Transcripts
NP_001350457.1:p.Phe1443Leu	CA020614 NM_001363528.2:c.4329C>A CA394302825 NM_001363528.2:c.4327T>C CA394302842 NM_001363528.2:c.4329C>G