Canonical Allele Identifier: PA2825388418
Gene: FKRP HGNC NCBI

Linked Data

ClinVar Variation Id: 129058
ClinVar RCV Id: RCV000117039 RCV000711666 RCV001086481 RCV001836732 RCV002426662
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001034974.1:p.Ile274Met
CA152821
NM_001039885.3:c.822C>G