Allele Registry

Canonical Allele Identifier: PA2828414110

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000034656

RCV000215282

RCV001081977

ClinVar Variation:

41739

HGVS (amino-acid)	Matching Registered Transcripts
NP_001357333.1:p.Ala1305Val	CA019876 NM_001370404.1:c.3914C>T