Allele Registry

Canonical Allele Identifier: PA2827003266

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000468858

RCV000575419

RCV001567190

ClinVar Variation:

405953

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305756.1:p.Pro1018Leu	CA045588 NM_001318827.2:c.3053C>T