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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:
PA2825004103
Gene: ACADVL
HGNC
NCBI
Linked Data
ClinVar Variation Id:
803305
ClinVar RCV Id:
RCV000989694
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000009.1:p.Gly441Ala
CA397724865
NM_000018.4:c.1322G>C