Allele Registry

Canonical Allele Identifier: PA2828415790

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000189951

RCV000696799

RCV002345683

ClinVar Variation:

207696

HGVS (amino-acid)	Matching Registered Transcripts
NP_001357333.1:p.Ile1753Leu	CA319402 NM_001370404.1:c.5257A>C