Allele Registry

Canonical Allele Identifier: PA658681118

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000571806

RCV000706819

RCV002266988

RCV002491143

RCV004001158

ClinVar Variation:

486637

HGVS (amino-acid)	Matching Registered Transcripts
NP_000539.2:p.Arg1268Cys	CA276750224 NM_000548.5:c.3802C>T