Allele Registry

This allele is not present in the registry. To get a canonical identifier, please click on the "Get identifier" below.

Canonical Allele Identifier: Get Identifier

Gene: VHL HGNC NCBI

HGVS (amino-acid)	Transcript change
ENSP00000344757.2:p.Val129Ala	ENST00000345392.2:c.[378del;380G>T;384A>T... ENST00000345392.2:c.[382del;384A>T;386T>G... ENST00000345392.2:c.[384del;386T>G;389dup... ENST00000345392.2:c.[386del;389dup] ENST00000345392.2:c.386T>C