Canonical Allele Identifier: PA2825388262
Gene: FKRP HGNC NCBI

Linked Data

ClinVar Variation Id: 285433
ClinVar RCV Id: RCV000324567 RCV000673996 RCV001859617 RCV002348000
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001034974.1:p.Tyr182His
CA9532163
NM_001039885.3:c.544T>C