Canonical Allele Identifier: PA2580120479
Gene: CFTR HGNC NCBI

Linked Data

ClinVar Variation Id: 2447429
ClinVar RCV Id: RCV003165245
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000483.3:p.Val1129Ile
CA368993336
NM_000492.4:c.3385G>A