ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA252251
Gene: HJV
HGNC
NCBI
Linked Data
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Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_998818.1:p.Arg326Ter
NM_213653.4:c.976C>T