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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:
PA2741835732
Gene: GNE
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2937318
ClinVar RCV Id:
RCV003791508
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001121699.1:p.Ile31Val
CA373422297
NM_001128227.3:c.91A>G