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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:
PA2825374595
Gene: ACADVL
HGNC
NCBI
Linked Data
ClinVar Variation Id:
418711
ClinVar RCV Id:
RCV000479965
RCV001200830
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001029031.1:p.Arg319Thr
CA16620600
NM_001033859.2:c.956G>C