Canonical Allele Identifier: PA913194103
Gene: CFTR HGNC NCBI

Linked Data

ClinVar Variation Id: 632757
ClinVar RCV Id: RCV000780145 RCV001825524 RCV003166069
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000483.3:p.Val393Leu
CA368980144
NM_000492.4:c.1177G>C
CA368980145
NM_000492.4:c.1177G>T