Allele Registry

Canonical Allele Identifier: PA2825439398

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000043179

RCV000189943

RCV000512881

RCV000571102

RCV001082733

RCV002222154

ClinVar Variation:

49912

HGVS (amino-acid)	Matching Registered Transcripts
NP_001070651.1:p.Arg1639Cys	CA021761 NM_001077183.3:c.4915C>T