Allele Registry

Canonical Allele Identifier: PA2827007723

Gene: TSC2 HGNC NCBI

ClinVar Allele:

59281

ClinVar RCV:

RCV000043386

RCV002273946

ClinVar Variation:

50119

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305758.1:p.Leu684Pro	CA016906 NM_001318829.2:c.2051T>C