Canonical Allele Identifier: PA221012
Gene: CFTR HGNC NCBI

Linked Data

ClinVar Variation Id: 53460
ClinVar RCV Id: RCV000078984 RCV000675059 RCV002256031 RCV001588874 RCV003473479 RCV001009488
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000483.3:p.Pro750Leu
CA221011
NM_000492.4:c.2249C>T