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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:
PA2827139748
Gene: NDUFA10
HGNC
NCBI
Linked Data
ClinVar Variation Id:
372194
ClinVar RCV Id:
RCV000412613
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308949.1:p.Leu294Pro
CA16044168
NM_001322020.1:c.881T>C