Allele Registry

Canonical Allele Identifier: PA2827004061

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000034656

RCV000215282

RCV001081977

ClinVar Variation:

41739

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305756.1:p.Ala1246Val	CA019876 NM_001318827.2:c.3737C>T