Allele Registry

Canonical Allele Identifier: PA2825573771

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000042429

RCV001298722

RCV001565367

ClinVar Variation:

49173

HGVS (amino-acid)	Matching Registered Transcripts
NP_001107854.1:p.His593Arg	CA015696 NM_001114382.3:c.1778A>G