Allele Registry

Canonical Allele Identifier: PA2827011227

Gene: TSC2 HGNC NCBI

ClinVar Allele:

465788

ClinVar RCV:

RCV000548111

RCV003302845

RCV003999257

ClinVar Variation:

467894

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305758.1:p.Val542Ile	CA276735673 NM_001318829.2:c.1624G>A