Allele Registry

SUSPENSION NOTICE:2024-08-07T19:00:00-0500 — 2024-09-25T08:00:00-0500
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Canonical Allele Identifier: PA2499289989

Gene: FKRP HGNC NCBI

Linked Data

ClinVar Variation Id: 1014431

ClinVar RCV Id: RCV001313163 RCV002493635 RCV002395667 RCV003145551

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_077277.1:p.Ser494Arg	CA9532330 NM_024301.5:c.1482C>A CA406497450 NM_024301.5:c.1480A>C CA406497454 NM_024301.5:c.1482C>G