ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830270679
Gene: HFE
HGNC
NCBI
Linked Data
ClinVar Variation Id:
452680
ClinVar RCV Id:
RCV000519340
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_620578.1:p.Arg48Gln
CA3666613
NM_139009.3:c.143G>A