Allele Registry

Canonical Allele Identifier: PA2828421771

Gene: TSC2 HGNC NCBI

ClinVar Allele:

466066

ClinVar RCV:

RCV000547303

RCV000570898

RCV003403303

ClinVar Variation:

468155

HGVS (amino-acid)	Matching Registered Transcripts
NP_001357334.1:p.Leu1720Val	CA054998 NM_001370405.1:c.5158C>G