Allele Registry

Canonical Allele Identifier: PA645432060

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000469059

RCV002402241

ClinVar Variation:

406007

HGVS (amino-acid)	Matching Registered Transcripts
NP_000539.2:p.Gln595Glu	CA16614929 NM_000548.5:c.1783C>G