Allele Registry

Canonical Allele Identifier: PA262468

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000042429

RCV001298722

RCV001565367

ClinVar Variation:

49173

HGVS (amino-acid)	Matching Registered Transcripts
NP_000539.2:p.His593Arg	CA015696 NM_000548.5:c.1778A>G