Allele Registry

Canonical Allele Identifier: PA2828418990

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000563535

RCV000924510

RCV001577990

ClinVar Variation:

480854

HGVS (amino-acid)	Matching Registered Transcripts
NP_001357334.1:p.Glu929Lys	CA041991 NM_001370405.1:c.2785G>A