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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:
PA260238
Gene: CFTR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
35870
ClinVar RCV Id:
RCV000029525
RCV000498090
RCV000770760
RCV001161755
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000483.3:p.Ile119Val
CA260237
NM_000492.4:c.355A>G