Allele Registry

Canonical Allele Identifier: PA2828416787

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000042662

RCV002513623

RCV003333730

ClinVar Variation:

49402

HGVS (amino-acid)	Matching Registered Transcripts
NP_001357334.1:p.Gly294Arg	CA023075 NM_001370405.1:c.880G>A CA394315117 NM_001370405.1:c.880G>C