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.
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Canonical Allele Identifier: PA2825388708

Gene: FKRP HGNC NCBI

Linked Data

ClinVar Variation Id: 1062341

ClinVar RCV Id: RCV001372042

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001034974.1:p.Phe454Leu	CA406497208 NM_001039885.3:c.1360T>C CA406497213 NM_001039885.3:c.1362T>A CA406497214 NM_001039885.3:c.1362T>G