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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:
PA252837
Gene: ACADM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
3597
ClinVar RCV Id:
RCV000003780
RCV000185668
RCV002512723
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001120800.1:p.Tyr71His
CA252836
NM_001127328.3:c.211T>C