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: PA2825388691

Gene: FKRP HGNC NCBI

Linked Data

ClinVar Variation Id: 290648

ClinVar RCV Id: RCV000399945

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001034974.1:p.Phe441Leu	CA10606861 NM_001039885.3:c.1323T>G CA406497129 NM_001039885.3:c.1321T>C CA406497134 NM_001039885.3:c.1323T>A