Allele Registry

Canonical Allele Identifier: PA094743

Gene: CFTR HGNC NCBI

Linked Data

ClinVar RCV:

RCV000043664

RCV000056350

RCV000211129

RCV000211346

RCV000508411

RCV000576753

RCV000763573

RCV000781222

RCV001004464

RCV001004466

RCV001826533

RCV001826538

RCV002247407

RCV002248790

RCV003466883

RCV003473249

RCV003476914

ClinVar Variation:

38733

40190

487375

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