Allele Registry

Canonical Allele Identifier: PA263049

Gene: TSC2 HGNC NCBI

ClinVar Allele:

59140

ClinVar RCV:

RCV000043245

RCV001238557

RCV002345329

ClinVar Variation:

49978

HGVS (amino-acid)	Matching Registered Transcripts
NP_000539.2:p.Gly1642Asp	CA021290 NM_000548.5:c.4925G>A