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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:
PA2826790011
Gene: EIF4G1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
30073
ClinVar RCV Id:
RCV000022976
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001278086.2:p.Ala462Val
CA128911
NM_001291157.2:c.1385C>T