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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:
PA2580177987
Gene: ACADVL
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1972478
ClinVar RCV Id:
RCV002746230
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001257376.1:p.Met601Val
CA397725754
NM_001270447.2:c.1801A>G