Canonical Allele Identifier: PA327104
Gene: CFTR HGNC NCBI

Linked Data

ClinVar Variation Id: 53688
ClinVar Variation Id: 993219

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000483.3:p.Phe1074Leu
CA327103
NM_000492.4:c.3222T>A
CA368992136
NM_000492.4:c.3220T>C
CA368992145
NM_000492.4:c.3222T>G