Allele Registry

Canonical Allele Identifier: PA2828417898

Gene: TSC2 HGNC NCBI

ClinVar Allele:

58937

ClinVar RCV:

RCV000043040

RCV000713916

RCV001379863

ClinVar Variation:

49775

HGVS (amino-acid)	Matching Registered Transcripts
NP_001357334.1:p.Arg622Pro	CA016103 NM_001370405.1:c.1865G>C