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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:
PA2825003303
Gene: ACADM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2622343
ClinVar RCV Id:
RCV003381491
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000007.1:p.Ala276Thr
CA340816786
NM_000016.6:c.826G>A