ClinGen Allele Registry
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This allele is not present in the registry. To get a canonical identifier, please click on the "Get identifier" below.
Canonical Allele Identifier:
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Gene: HJV
HGNC
NCBI
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_001366281.1:p.Arg54Ter
NM_001379352.1:c.[159del;161G>T]
NM_001379352.1:c.[159del;161G>T;163G>A]
NM_001379352.1:c.160A>T
