Canonical Allele Identifier: PA1139680478
Gene: CFTR HGNC NCBI

Linked Data

ClinVar Variation Id: 969100
ClinVar RCV Id: RCV001244366 RCV001836229
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000483.3:p.Val171Ile
CA4450749
NM_000492.4:c.511G>A