Allele Registry

Canonical Allele Identifier: PA2827013665

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000043451

RCV000430436

RCV001705694

ClinVar Variation:

50182

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305760.1:p.Pro616Leu	CA017430 NM_001318831.2:c.1847C>T