Allele Registry

Canonical Allele Identifier: PA2827005469

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000550602

RCV000604770

RCV002341373

RCV003627753

RCV003999327

RCV004538003

ClinVar Variation:

468147

2806460

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305756.1:p.Ile1632Val	CA054409 NM_001318827.2:c.4894A>G CA2739269936 NM_001318827.2:c.4893_4894delinsCG