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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:
PA220185
Gene: ACADM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
92268
ClinVar RCV Id:
RCV000180088
RCV000790655
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_001120800.1:p.Arg210His