ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
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
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_937799.1:p.Val129Ala
NM_198156.3:c.[378del;380G>T;384A>T;386T>...
NM_198156.3:c.[382del;384A>T;386T>G;389du...
NM_198156.3:c.[384del;386T>G;389dup]
NM_198156.3:c.[386del;389dup]
NM_198156.3:c.386T>C