ClinGen Allele Registry
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Canonical Allele Identifier:
PA182841
Gene: CFTR
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000029490
RCV000155473
RCV000515296
RCV000582625
RCV000583839
RCV000723382
RCV001009490
RCV002256005
ClinVar Variation:
35835
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000483.3:p.Arg668Cys
CA182840
NM_000492.4:c.2002C>T