Canonical Allele Identifier: PA252261
Gene: HJV HGNC NCBI

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Amino-acid Alleles

HGVS (amino-acid) Transcript change
NP_998818.1:p.Arg54Ter
NM_213653.4:c.[159del;161G>T]

NM_213653.4:c.[159del;161G>T;163G>A]

NM_213653.4:c.160A>T