ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830270548
Gene: HFE
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1217279
ClinVar RCV Id:
RCV001582388
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_620577.1:p.Tyr129del
CA3666717
NM_139008.3:c.385_387del