Allele Registry

Canonical Allele Identifier: PA916023399

Gene: TSC2 HGNC NCBI

ClinVar Allele:

58835

ClinVar RCV:

RCV000042935

RCV002513627

ClinVar Variation:

49673

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305761.1:p.Arg392Lys	CA013922 NM_001318832.2:c.1175G>A