Allele Registry

Canonical Allele Identifier: PA2828093716

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000571806

RCV000706819

RCV002266988

RCV002491143

RCV004001158

ClinVar Variation:

486637

HGVS (amino-acid)	Matching Registered Transcripts
NP_001350457.1:p.Arg1225Cys	CA276750224 NM_001363528.2:c.3673C>T