Allele Registry

Canonical Allele Identifier: PA2827007360

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000043040

RCV000713916

RCV001379863

ClinVar Variation:

49775

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305758.1:p.Arg573Pro	CA016103 NM_001318829.2:c.1718G>C