Allele Registry

Canonical Allele Identifier: PA658680488

Gene: TSC2 HGNC NCBI

ClinVar Allele:

465858

ClinVar RCV:

RCV000559621

RCV002384165

ClinVar Variation:

468197

HGVS (amino-acid)	Matching Registered Transcripts
NP_000539.2:p.Glu332Lys	CA276776600 NM_000548.5:c.994G>A