Allele Registry

Canonical Allele Identifier: PA645431926

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000430283

RCV001861619

ClinVar Variation:

389695

HGVS (amino-acid)	Matching Registered Transcripts
NP_000539.2:p.Cys414Gly	CA16608029 NM_000548.5:c.1240T>G