Allele Registry

Canonical Allele Identifier: PA2829983607

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000043227

RCV000190035

RCV000201149

RCV002336163

ClinVar Variation:

49960

HGVS (amino-acid)	Matching Registered Transcripts
NP_066399.2:p.Arg1700Gln	CA022218 NM_021055.3:c.5099G>A CA645572657 NM_021055.3:c.5099_5100delinsAA