Allele Registry

Canonical Allele Identifier: PA2827008455

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000531095

RCV000765271

RCV002321770

RCV004520819

ClinVar Variation:

207742

3232136

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305758.1:p.Gly984Arg	CA044834 NM_001318829.2:c.2950G>A CA394285992 NM_001318829.2:c.2950G>C