Allele Registry

Canonical Allele Identifier: PA2827018643

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000457622

RCV002446790

ClinVar Variation:

406055

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305761.1:p.Arg1045Gln	CA044900 NM_001318832.2:c.3134G>A