Allele Registry

Canonical Allele Identifier: PA2825439523

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000550602

RCV000604770

RCV002341373

RCV003627753

RCV003999327

RCV004538003

ClinVar Variation:

468147

2806460

HGVS (amino-acid)	Matching Registered Transcripts
NP_001070651.1:p.Ile1668Val	CA054409 NM_001077183.3:c.5002A>G CA2739269936 NM_001077183.3:c.5001_5002delinsCG