Canonical Allele Identifier: PA2825388259
Gene: FKRP HGNC NCBI

Linked Data

ClinVar Variation Id: 528815
ClinVar RCV Id: RCV000634057 RCV001591411 RCV002343234 RCV002492962 RCV001275313
ClinVar Variation Id: 565547
ClinVar RCV Id: RCV000685132 RCV003163093
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001034974.1:p.Arg181Ser
CA9532162
NM_001039885.3:c.541C>A
CA891844242
NM_001039885.3:c.540_541delinsTA