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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:
PA2830022820
Gene: NDUFAF5
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1804485
ClinVar RCV Id:
RCV002469786
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_077025.2:p.Arg198Trp
CA408270760
NM_024120.5:c.592C>T