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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:
PA645488865
Gene: ACADM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
281077
ClinVar RCV Id:
RCV000333494
RCV000723521
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000007.1:p.Gln45Arg
CA912974
NM_000016.6:c.134A>G