Allele Registry

SUSPENSION NOTICE:2024-08-07T19:00:00-0500 — 2024-09-25T08:00:00-0500
New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
This allows us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.

Canonical Allele Identifier: PA326622

Gene: CFTR HGNC NCBI

Linked Data

ClinVar Variation Id: 53350

ClinVar RCV Id: RCV000576998 RCV003317060

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000483.3:p.Leu568Phe	CA326621 NM_000492.4:c.1704G>T CA368977108 NM_000492.4:c.1704G>C