Allele Registry

Canonical Allele Identifier: PA2827005431

Gene: TSC2 HGNC NCBI

ClinVar Allele:

529736

ClinVar RCV:

RCV000644161

RCV002334132

ClinVar Variation:

535931

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305756.1:p.His1623Tyr	CA054330 NM_001318827.2:c.4867C>T