Allele Registry

Canonical Allele Identifier: PA2827005500

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000043227

RCV000190035

RCV000201149

RCV002336163

ClinVar Variation:

49960

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305756.1:p.Arg1640Gln	CA022218 NM_001318827.2:c.4919G>A CA645572657 NM_001318827.2:c.4919_4920delinsAA