Allele Registry

Canonical Allele Identifier: PA2827014127

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000218870

RCV000477004

RCV000574771

RCV003153493

ClinVar Variation:

229369

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305760.1:p.Gly757Glu	CA043736 NM_001318831.2:c.2270G>A