Canonical Allele Identifier: PA2825388363
Gene: FKRP HGNC NCBI

Linked Data

ClinVar Variation Id: 283038
ClinVar RCV Id: RCV000331999 RCV000457561 RCV000664793 RCV000725201 RCV002379117
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001034974.1:p.Arg244His
CA9532194
NM_001039885.3:c.731G>A