Allele Registry

Canonical Allele Identifier: PA2828412282

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000230681

RCV002261015

RCV002315685

RCV003998813

ClinVar Variation:

237986

HGVS (amino-acid)	Matching Registered Transcripts
NP_001357333.1:p.Ser758Cys	CA10583307 NM_001370404.1:c.2273C>G