Allele Registry

Canonical Allele Identifier: PA2825438103

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000531608

ClinVar Variation:

468059

HGVS (amino-acid)	Matching Registered Transcripts
NP_001070651.1:p.Ser1273Phe	CA050173 NM_001077183.3:c.3818C>T