Allele Registry

Canonical Allele Identifier: PA2828093165

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000562552

RCV001853809

ClinVar Variation:

486673

HGVS (amino-acid)	Matching Registered Transcripts
NP_001350457.1:p.Lys1063Met	CA045694 NM_001363528.2:c.3188A>T