Allele Registry

Canonical Allele Identifier: PA2828094984

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000480140

RCV000555170

ClinVar Variation:

424444

HGVS (amino-acid)	Matching Registered Transcripts
NP_001350457.1:p.Val1580Met	CA16620103 NM_001363528.2:c.4738G>A