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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:
PA2827025938
Gene: EIF2B4
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2203030
ClinVar RCV Id:
RCV002651446
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305895.1:p.Arg342Trp
CA1576662
NM_001318966.2:c.1024C>T