Allele Registry

Canonical Allele Identifier: PA658681351

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000543917

RCV002350297

RCV003999325

ClinVar Variation:

468141

HGVS (amino-acid)	Matching Registered Transcripts
NP_000539.2:p.Val1711Leu	CA394312457 NM_000548.5:c.5131G>C CA394312460 NM_000548.5:c.5131G>T