Allele Registry

Canonical Allele Identifier: PA2827002362

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000230681

RCV002261015

RCV002315685

RCV003998813

ClinVar Variation:

237986

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305756.1:p.Ser721Cys	CA10583307 NM_001318827.2:c.2162C>G