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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:
PA260226
Gene: CFTR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
35850
ClinVar RCV Id:
RCV000029505
RCV000506921
RCV000730038
RCV001378467
RCV002284180
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000483.3:p.Val938Gly
CA260225
NM_000492.4:c.2813T>G