Allele Registry

Canonical Allele Identifier: PA658805072

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000644155

RCV001021583

ClinVar Variation:

535925

HGVS (amino-acid)	Matching Registered Transcripts
NP_000539.2:p.Arg1329Cys	CA049839 NM_000548.5:c.3985C>T