Canonical Allele Identifier: PA2580120561
Gene: CFTR HGNC NCBI

Linked Data

ClinVar Variation Id: 2043198
ClinVar RCV Id: RCV002908509

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000483.3:p.Met1157Ile
CA4451482
NM_000492.4:c.3471G>A
CA368995912
NM_000492.4:c.3471G>T
CA368995914
NM_000492.4:c.3471G>C