Allele Registry

Canonical Allele Identifier: PA2827006667

Gene: TSC2 HGNC NCBI

ClinVar Allele:

477320

ClinVar RCV:

RCV000570261

RCV001054845

RCV004001174

ClinVar Variation:

486691

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305758.1:p.His336Arg	CA028650 NM_001318829.2:c.1007A>G