Allele Registry

Canonical Allele Identifier: PA645432983

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000480699

RCV000575219

RCV001087822

ClinVar Variation:

423627

HGVS (amino-acid)	Matching Registered Transcripts
NP_000539.2:p.Arg978Cys	CA042875 NM_000548.5:c.2932C>T