Allele Registry

Canonical Allele Identifier: PA2825437922

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000571806

RCV000706819

RCV002266988

RCV002491143

RCV004001158

ClinVar Variation:

486637

HGVS (amino-acid)	Matching Registered Transcripts
NP_001070651.1:p.Arg1224Cys	CA276750224 NM_001077183.3:c.3670C>T