Allele Registry

Canonical Allele Identifier: PA2827009244

Gene: TSC2 HGNC NCBI

ClinVar Allele:

139125

ClinVar RCV:

RCV000122232

RCV000564577

RCV000644340

ClinVar Variation:

135386

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305758.1:p.Arg1254Gln	CA019956 NM_001318829.2:c.3761G>A