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UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828939009
Gene: HFE
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1328992
ClinVar RCV Id:
RCV001797883
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001371093.1:p.Asp95His
CA3666621
NM_001384164.1:c.283G>C