Canonical Allele Identifier: PA2825388619
Gene: FKRP HGNC NCBI

Linked Data

ClinVar Variation Id: 291171
ClinVar RCV Id: RCV000285599 RCV001079454 RCV002348030 RCV004537622
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001034974.1:p.Ser385Leu
CA9532258
NM_001039885.3:c.1154C>T