Allele Registry

Canonical Allele Identifier: PA2828419477

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000465409

RCV002451089

ClinVar Variation:

406114

HGVS (amino-acid)	Matching Registered Transcripts
NP_001357334.1:p.Gly1080Glu	CA16614770 NM_001370405.1:c.3239G>A