Allele Registry

Canonical Allele Identifier: PA2827021094

Gene: TSC2 HGNC NCBI

ClinVar Allele:

466071

ClinVar RCV:

RCV000535476

RCV001821554

RCV002350300

ClinVar Variation:

468157

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305761.1:p.Ser1718Gly	CA055089 NM_001318832.2:c.5152A>G