Allele Registry

Canonical Allele Identifier: PA2825576117

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000531608

ClinVar Variation:

468059

HGVS (amino-acid)	Matching Registered Transcripts
NP_001107854.1:p.Ser1317Phe	CA050173 NM_001114382.3:c.3950C>T