Canonical Allele Identifier: PA1139680490
Gene: CFTR HGNC NCBI

Linked Data

ClinVar Variation Id: 917999
ClinVar RCV Id: RCV001175244
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000483.3:p.Leu184Arg
CA368976506
NM_000492.4:c.551T>G