Allele Registry

Canonical Allele Identifier: PA2827000730

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000042662

RCV002513623

RCV003333730

ClinVar Variation:

49402

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305756.1:p.Gly257Arg	CA023075 NM_001318827.2:c.769G>A CA394315117 NM_001318827.2:c.769G>C