Allele Registry

Canonical Allele Identifier: PA108045

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000043451

RCV000430436

RCV001705694

ClinVar Variation:

50182

HGVS (amino-acid)	Matching Registered Transcripts
NP_000539.2:p.Pro816Leu	CA017430 NM_000548.5:c.2447C>T