ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA093821
Gene: CFTR
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000007533
RCV000224789
RCV000780134
RCV001004262
RCV001831521
RCV002504762
RCV003473005
ClinVar Variation:
7113
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000483.3:p.Arg560Thr
CA340633
NM_000492.4:c.1679G>C