Canonical Allele Identifier: PA094547
Gene: CFTR HGNC NCBI

Linked Data

ClinVar Variation Id: 53580
ClinVar Variation Id: 596906
ClinVar Variation Id: 2768661
ClinVar RCV Id: RCV003507873

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000483.3:p.Met952Ile
CA326946
NM_000492.4:c.2856G>C
CA4451300
NM_000492.4:c.2856G>A
CA368987334
NM_000492.4:c.2856G>T