Allele Registry

Canonical Allele Identifier: PA2829983757

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000569715

RCV001327371

RCV002260649

ClinVar Variation:

486648

HGVS (amino-acid)	Matching Registered Transcripts
NP_066399.2:p.Ala1715Pro	CA394315130 NM_021055.3:c.5143G>C