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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:
PA112675
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_009223.2:p.Met278Val
CA115025
NM_007292.6:c.832A>G