Allele Registry

Canonical Allele Identifier: PA2828091325

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000226536

RCV002282073

RCV002399815

RCV003998805

ClinVar Variation:

237969

HGVS (amino-acid)	Matching Registered Transcripts
NP_001350457.1:p.Ser538Phe	CA10583296 NM_001363528.2:c.1613C>T