Allele Registry

Canonical Allele Identifier: PA2827001731

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000469059

RCV002402241

ClinVar Variation:

406007

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305756.1:p.Gln558Glu	CA16614929 NM_001318827.2:c.1672C>G