Allele Registry

Canonical Allele Identifier: PA2827002559

Gene: TSC2 HGNC NCBI

ClinVar Allele:

59344

ClinVar RCV:

RCV000043451

RCV000430436

RCV001705694

ClinVar Variation:

50182

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305756.1:p.Pro779Leu	CA017430 NM_001318827.2:c.2336C>T