Canonical Allele Identifier: PA093661
Gene: CFTR HGNC NCBI

Linked Data

ClinVar Variation Id: 48688
ClinVar RCV Id: RCV000056382 RCV000763150 RCV000727627 RCV001004428 RCV001009394 RCV003227627 RCV001826603 RCV003473295
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000483.3:p.Arg117Cys
CA328115
NM_000492.4:c.349C>T