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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:
PA2826521134
Gene: CFAP410
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1467342
ClinVar RCV Id:
RCV001970385
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001258371.1:p.Arg19Trp
CA10053771
NM_001271442.1:c.55C>T