Allele Registry

Canonical Allele Identifier: PA2828415544

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000043227

RCV000190035

RCV000201149

RCV002336163

ClinVar Variation:

49960

HGVS (amino-acid)	Matching Registered Transcripts
NP_001357333.1:p.Arg1699Gln	CA022218 NM_001370404.1:c.5096G>A CA645572657 NM_001370404.1:c.5096_5097delinsAA