Allele Registry

Canonical Allele Identifier: PA2828094820

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000415747

RCV000570208

RCV001088185

RCV003998833

RCV004532853

ClinVar Variation:

238061

HGVS (amino-acid)	Matching Registered Transcripts
NP_001350457.1:p.Val1533Met	CA052464 NM_001363528.2:c.4597G>A