Canonical Allele Identifier: PA326411
Gene: CFTR HGNC NCBI

Linked Data

ClinVar Variation Id: 53196
ClinVar RCV Id: RCV000577124 RCV001000769 RCV001192399 RCV003473445
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000483.3:p.Leu375Phe
CA326410
NM_000492.4:c.1125A>C
CA368979807
NM_000492.4:c.1125A>T