Canonical Allele Identifier: PA094747
Gene: CFTR HGNC NCBI

Linked Data

ClinVar Variation Id: 7116
ClinVar RCV Id: RCV000007536 RCV000211264 RCV000727629 RCV001004465 RCV001831522 RCV002247260 RCV002496296 RCV003473007
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000483.3:p.Ser549Asn
CA325521
NM_000492.4:c.1646G>A