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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:
PA2580192102
Gene: ACADM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2438806
ClinVar RCV Id:
RCV003139558
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001272973.1:p.Gly80Asp
CA340816735
NM_001286044.2:c.239G>A