Canonical Allele Identifier: PA326781
Gene: CFTR HGNC NCBI

Linked Data

ClinVar Variation Id: 53463
ClinVar RCV Id: RCV000577629
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000483.3:p.Ser753Arg
CA326780
NM_000492.4:c.2259C>G
CA368980673
NM_000492.4:c.2257A>C
CA368980689
NM_000492.4:c.2259C>A