Allele Registry

Canonical Allele Identifier: PA264479

Gene: TSC2 HGNC NCBI

ClinVar Allele:

75916

ClinVar RCV:

RCV000055190

RCV000189888

RCV001853090

RCV002390202

RCV003480048

ClinVar Variation:

64986

HGVS (amino-acid)	Matching Registered Transcripts
NP_000539.2:p.Glu498Lys	CA014970 NM_000548.5:c.1492G>A