Allele Registry

Canonical Allele Identifier: PA645433877

Gene: TSC2 HGNC NCBI

ClinVar Allele:

242304

ClinVar RCV:

RCV000234433

RCV002327110

ClinVar Variation:

238044

HGVS (amino-acid)	Matching Registered Transcripts
NP_000539.2:p.Glu1390Lys	CA050575 NM_000548.5:c.4168G>A