Allele Registry

Canonical Allele Identifier: PA658805107

Gene: TSC2 HGNC NCBI

ClinVar Allele:

529736

ClinVar RCV:

RCV000644161

RCV002334132

ClinVar Variation:

535931

HGVS (amino-acid)	Matching Registered Transcripts
NP_000539.2:p.His1726Tyr	CA054330 NM_000548.5:c.5176C>T