Allele Registry

Canonical Allele Identifier: PA2827012948

Gene: TSC2 HGNC NCBI

ClinVar Allele:

58937

ClinVar RCV:

RCV000043040

RCV000713916

RCV001379863

ClinVar Variation:

49775

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305760.1:p.Arg422Pro	CA016103 NM_001318831.2:c.1265G>C