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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:
PA2826520235
Gene: CFAP410
HGNC
NCBI
Linked Data
ClinVar Variation Id:
863248
ClinVar RCV Id:
RCV001070172
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001258369.1:p.Cys61Gly
CA410457525
NM_001271440.2:c.181T>G