Allele Registry

Canonical Allele Identifier: PA2828420270

Gene: TSC2 HGNC NCBI

ClinVar Allele:

203184

ClinVar RCV:

RCV000190029

RCV000644243

RCV001021792

RCV003996895

ClinVar Variation:

207752

HGVS (amino-acid)	Matching Registered Transcripts
NP_001357334.1:p.Gly1313Asp	CA050325 NM_001370405.1:c.3938G>A