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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:
PA2826153725
Gene: ACOX1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1499
ClinVar RCV Id:
RCV000001564
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001171968.1:p.Met240Val
CA115025
NM_001185039.2:c.718A>G