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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:
PA105142
Gene: COQ8A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
296015
ClinVar RCV Id:
RCV000416392
RCV000493536
RCV002252090
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_064632.2:p.Arg271Cys
CA1425162
NM_020247.5:c.811C>T