Allele Registry

Canonical Allele Identifier: PA2827009688

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000644095

RCV002331186

RCV004003991

ClinVar Variation:

535877

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305758.1:p.Ser1392Tyr	CA051496 NM_001318829.2:c.4175C>A