Canonical Allele Identifier: PA327392
Gene: CFTR HGNC NCBI
ClinVar RCV:
RCV000577427
ClinVar Variation:
53881
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000483.3:p.Lys1351Glu
CA327391
NM_000492.4:c.4051A>G