Allele Registry

Canonical Allele Identifier: PA2825438604

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000644158

RCV002331189

RCV004004004

ClinVar Variation:

535928

HGVS (amino-acid)	Matching Registered Transcripts
NP_001070651.1:p.Thr1418Ile	CA051214 NM_001077183.3:c.4253C>T