Allele Registry

Canonical Allele Identifier: PA2825437433

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000465409

RCV002451089

ClinVar Variation:

406114

HGVS (amino-acid)	Matching Registered Transcripts
NP_001070651.1:p.Gly1079Glu	CA16614770 NM_001077183.3:c.3236G>A