Allele Registry

Canonical Allele Identifier: PA645435200

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000415747

RCV000570208

RCV001088185

RCV003998833

RCV004532853

ClinVar Variation:

238061

HGVS (amino-acid)	Matching Registered Transcripts
NP_000539.2:p.Val1599Met	CA052464 NM_000548.5:c.4795G>A