Allele Registry

Canonical Allele Identifier: PA2827003375

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000458982

RCV002451088

RCV004000702

RCV004529590

ClinVar Variation:

406032

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305756.1:p.Arg1049Cys	CA16615117 NM_001318827.2:c.3145C>T