Allele Registry

Canonical Allele Identifier: PA319543

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000190039

RCV001084596

RCV002336507

ClinVar Variation:

207758

HGVS (amino-acid)	Matching Registered Transcripts
NP_000539.2:p.Cys1680Tyr	CA053573 NM_000548.5:c.5039G>A