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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:
PA260240
Gene: CFTR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
35873
ClinVar RCV Id:
RCV000029528
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000483.3:p.Gly124Arg
CA260239
NM_000492.4:c.370G>C