Allele Registry

Canonical Allele Identifier: PA2825438206

Gene: TSC2 HGNC NCBI

ClinVar Allele:

139125

ClinVar RCV:

RCV000122232

RCV000564577

RCV000644340

ClinVar Variation:

135386

HGVS (amino-acid)	Matching Registered Transcripts
NP_001070651.1:p.Arg1302Gln	CA019956 NM_001077183.3:c.3905G>A