Allele Registry

Canonical Allele Identifier: PA2828421280

Gene: TSC2 HGNC NCBI

ClinVar Allele:

59140

ClinVar RCV:

RCV000043245

RCV001238557

RCV002345329

ClinVar Variation:

49978

HGVS (amino-acid)	Matching Registered Transcripts
NP_001357334.1:p.Gly1599Asp	CA021290 NM_001370405.1:c.4796G>A