Allele Registry

Canonical Allele Identifier: PA658681154

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000531608

ClinVar Variation:

468059

HGVS (amino-acid)	Matching Registered Transcripts
NP_000539.2:p.Ser1340Phe	CA050173 NM_000548.5:c.4019C>T