Allele Registry

Canonical Allele Identifier: PA2828093898

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000531608

ClinVar Variation:

468059

HGVS (amino-acid)	Matching Registered Transcripts
NP_001350457.1:p.Ser1274Phe	CA050173 NM_001363528.2:c.3821C>T