Allele Registry

Canonical Allele Identifier: PA2829974248

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000055558

RCV001824119

ClinVar Variation:

65334

HGVS (amino-acid)	Matching Registered Transcripts
NP_066399.2:p.His597Tyr	CA015730 NM_021055.3:c.1789C>T