Allele Registry

Canonical Allele Identifier: PA2828414132

Gene: TSC2 HGNC NCBI

ClinVar Allele:

203184

ClinVar RCV:

RCV000190029

RCV000644243

RCV001021792

RCV003996895

ClinVar Variation:

207752

HGVS (amino-acid)	Matching Registered Transcripts
NP_001357333.1:p.Gly1312Asp	CA050325 NM_001370404.1:c.3935G>A