Allele Registry

Canonical Allele Identifier: PA2828093954

Gene: TSC2 HGNC NCBI

ClinVar Allele:

203184

ClinVar RCV:

RCV000190029

RCV000644243

RCV001021792

RCV003996895

ClinVar Variation:

207752

HGVS (amino-acid)	Matching Registered Transcripts
NP_001350457.1:p.Gly1290Asp	CA050325 NM_001363528.2:c.3869G>A