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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:
PA2828827324
Gene: HJV
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1918941
ClinVar RCV Id:
RCV002617387
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001366281.1:p.Gly109Asp
CA342142424
NM_001379352.1:c.326G>A