Allele Registry

Canonical Allele Identifier: PA2827021062

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000547303

RCV000570898

RCV003403303

ClinVar Variation:

468155

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305761.1:p.Leu1711Val	CA054998 NM_001318832.2:c.5131C>G