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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:
PA2826520711
Gene: CFAP410
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1419614
ClinVar RCV Id:
RCV001910488
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001258370.1:p.Arg60Gln
CA10053769
NM_001271441.2:c.179G>A