Allele Registry

Canonical Allele Identifier: PA916022986

Gene: TSC2 HGNC NCBI

ClinVar Allele:

58564

ClinVar RCV:

RCV000042662

RCV002513623

RCV003333730

ClinVar Variation:

49402

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305760.1:p.Gly94Arg	CA023075 NM_001318831.2:c.280G>A CA394315117 NM_001318831.2:c.280G>C