Allele Registry

Canonical Allele Identifier: PA2827005360

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000543917

RCV002350297

RCV003999325

ClinVar Variation:

468141

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305756.1:p.Val1608Leu	CA394312457 NM_001318827.2:c.4822G>C CA394312460 NM_001318827.2:c.4822G>T