Allele Registry

Canonical Allele Identifier: PA2827001739

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000042891

RCV002513625

ClinVar Variation:

49629

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305756.1:p.His560Arg	CA015754 NM_001318827.2:c.1679A>G