Allele Registry

Canonical Allele Identifier: PA2827003356

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000465409

RCV002451089

ClinVar Variation:

406114

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305756.1:p.Gly1043Glu	CA16614770 NM_001318827.2:c.3128G>A