Allele Registry

Canonical Allele Identifier: PA2827020797

Gene: TSC2 HGNC NCBI

ClinVar Allele:

59074

ClinVar RCV:

RCV000043179

RCV000189943

RCV000512881

RCV000571102

RCV001082733

RCV002222154

ClinVar Variation:

49912

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305761.1:p.Arg1650Cys	CA021761 NM_001318832.2:c.4948C>T