Allele Registry

Canonical Allele Identifier: PA2827016742

Gene: TSC2 HGNC NCBI

ClinVar Allele:

76216

584875

ClinVar RCV:

RCV000055506

RCV000728954

RCV003512008

ClinVar Variation:

65284

593812

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305761.1:p.Met12Ile	CA019804 NM_001318832.2:c.36G>A CA394300412 NM_001318832.2:c.36G>C CA394300423 NM_001318832.2:c.36G>T