Allele Registry

Canonical Allele Identifier: PA262993

Gene: TSC2 HGNC NCBI

ClinVar Allele:

59060

ClinVar RCV:

RCV000043165

RCV000431983

RCV000476314

RCV002287356

RCV002326763

ClinVar Variation:

49898

HGVS (amino-acid)	Matching Registered Transcripts
NP_000539.2:p.Phe143Leu	CA020223 NM_000548.5:c.429C>G CA394307282 NM_000548.5:c.427T>C CA394307299 NM_000548.5:c.429C>A