Allele Registry

Canonical Allele Identifier: PA2827005837

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000459248

RCV002411435

ClinVar Variation:

406100

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305758.1:p.Cys16Arg	CA16614896 NM_001318829.2:c.46T>C