Allele Registry

Canonical Allele Identifier: PA263138

Gene: TSC2 HGNC NCBI

ClinVar Allele:

59258

ClinVar RCV:

RCV000043362

RCV002326765

RCV002514176

ClinVar Variation:

50096

HGVS (amino-acid)	Matching Registered Transcripts
NP_000539.2:p.Leu1584Arg	CA020979 NM_000548.5:c.4751T>G