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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:
PA2580116048
Gene: CFTR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1732787
ClinVar RCV Id:
RCV002454997
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000483.3:p.Ile119Ser
CA368974471
NM_000492.4:c.356T>G