Canonical Allele Identifier: PA2825388278
Gene: FKRP HGNC NCBI

Linked Data

ClinVar Variation Id: 933974
ClinVar RCV Id: RCV001202297 RCV001751372 RCV002348654 RCV001828625
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001034974.1:p.Arg190His
CA309099363
NM_001039885.3:c.569G>A