Allele Registry

Canonical Allele Identifier: PA658804872

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000644165

RCV002388092

ClinVar Variation:

535934

HGVS (amino-acid)	Matching Registered Transcripts
NP_000539.2:p.Arg25Lys	CA056318 NM_000548.5:c.74G>A