Allele Registry

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Canonical Allele Identifier: PA094743

Gene: CFTR HGNC NCBI

Linked Data

ClinVar Variation Id: 38733

ClinVar RCV Id: RCV000043664 RCV000211346 RCV000781222 RCV001004464 RCV001826533 RCV002247407 RCV003476914 RCV003466883

ClinVar Variation Id: 40190

ClinVar RCV Id: RCV000056350 RCV000211129 RCV000508411 RCV000763573 RCV001004466 RCV001826538 RCV003473249

ClinVar Variation Id: 487375

ClinVar RCV Id: RCV000576753 RCV002248790

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000483.3:p.Ser549Arg	CA254107 NM_000492.4:c.1647T>G CA254108 NM_000492.4:c.1645A>C CA368976076 NM_000492.4:c.1647T>A