Allele Registry

Canonical Allele Identifier: PA2827014724

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000571806

RCV000706819

RCV002266988

RCV002491143

RCV004001158

ClinVar Variation:

486637

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305760.1:p.Arg1024Cys	CA276750224 NM_001318831.2:c.3070C>T