Allele Registry

Canonical Allele Identifier: PA319529

Gene: TSC2 HGNC NCBI

ClinVar Allele:

203184

ClinVar RCV:

RCV000190029

RCV000644243

RCV001021792

RCV003996895

ClinVar Variation:

207752

HGVS (amino-acid)	Matching Registered Transcripts
NP_000539.2:p.Gly1356Asp	CA050325 NM_000548.5:c.4067G>A