Canonical Allele Identifier: PA327213
Gene: CFTR HGNC NCBI

Linked Data

ClinVar Variation Id: 53758
ClinVar RCV Id: RCV000577699

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000483.3:p.Ser1161Arg
CA327212
NM_000492.4:c.3481A>C
CA368995997
NM_000492.4:c.3483C>A
CA368995999
NM_000492.4:c.3483C>G