Allele Registry

Canonical Allele Identifier: PA2827001117

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000430283

RCV001861619

ClinVar Variation:

389695

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305756.1:p.Cys377Gly	CA16608029 NM_001318827.2:c.1129T>G