Allele Registry

Canonical Allele Identifier: PA2825438979

Gene: TSC2 HGNC NCBI

ClinVar Allele:

59258

ClinVar RCV:

RCV000043362

RCV002326765

RCV002514176

ClinVar Variation:

50096

HGVS (amino-acid)	Matching Registered Transcripts
NP_001070651.1:p.Leu1517Arg	CA020979 NM_001077183.3:c.4550T>G