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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:
PA2826699661
Gene: ACADM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1411685
ClinVar RCV Id:
RCV001922884
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001272971.1:p.Asp32Asn
CA340809578
NM_001286042.2:c.94G>A