Allele Registry

Canonical Allele Identifier: PA2828421912

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000189951

RCV000696799

RCV002345683

ClinVar Variation:

207696

HGVS (amino-acid)	Matching Registered Transcripts
NP_001357334.1:p.Ile1750Leu	CA319402 NM_001370405.1:c.5248A>C