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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:
PA2827026217
Gene: EIF2B4
HGNC
NCBI
Linked Data
ClinVar Variation Id:
4121
ClinVar RCV Id:
RCV003221397
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305896.1:p.Cys434Arg
CA116652
NM_001318967.2:c.1300T>C