Canonical Allele Identifier: PA2573171036
Gene: CFTR HGNC NCBI

Linked Data

ClinVar Variation Id: 1371238
ClinVar RCV Id: RCV001864484
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000483.3:p.Val1129Leu
CA368993338
NM_000492.4:c.3385G>C