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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:
PA2826700859
Gene: ACADM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
3590
ClinVar RCV Id:
RCV000003773
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001272972.1:p.Cys277Arg
CA252828
NM_001286043.2:c.829T>C