Allele Registry

Canonical Allele Identifier: PA2827006139

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000227485

RCV001024387

ClinVar Variation:

238088

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305758.1:p.Cys140Tyr	CA055403 NM_001318829.2:c.419G>A