Allele Registry

Canonical Allele Identifier: PA645433004

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000218870

RCV000477004

RCV000574771

RCV003153493

ClinVar Variation:

229369

HGVS (amino-acid)	Matching Registered Transcripts
NP_000539.2:p.Gly1001Glu	CA043736 NM_000548.5:c.3002G>A