Allele Registry

Canonical Allele Identifier: PA2825577432

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_001107854.1:p.Arg1683Cys	CA021761 NM_001114382.3:c.5047C>T