ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA093555
Gene: CFTR
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000007531
RCV000660853
RCV000763569
RCV001004446
RCV001530091
RCV001826427
RCV003473003
ClinVar Variation:
7111
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000483.3:p.Ala455Glu
CA340631
NM_000492.4:c.1364C>A