Allele Registry

Canonical Allele Identifier: PA658681113

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000526703

RCV002350296

ClinVar Variation:

468039

HGVS (amino-acid)	Matching Registered Transcripts
NP_000539.2:p.Lys1262Arg	CA048406 NM_000548.5:c.3785A>G