Canonical Allele Identifier: PA094014
Gene: FKRP HGNC NCBI

Linked Data

ClinVar Variation Id: 4221
ClinVar RCV Id: RCV000004442 RCV000082182 RCV000231711 RCV000503787 RCV000515332 RCV000626960 RCV000612115 RCV000660622 RCV001197775 RCV001329320 RCV001526640 RCV002222338 RCV002408451 RCV003993736 RCV004532287
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001034974.1:p.Leu276Ile
CA116701
NM_001039885.3:c.826C>A