Allele Registry

Canonical Allele Identifier: PA916022872

Gene: TSC2 HGNC NCBI

ClinVar Allele:

59060

ClinVar RCV:

RCV000043165

RCV000431983

RCV000476314

RCV002287356

RCV002326763

ClinVar Variation:

49898

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305758.1:p.Phe94Leu	CA020223 NM_001318829.2:c.282C>G CA394307282 NM_001318829.2:c.280T>C CA394307299 NM_001318829.2:c.282C>A