Canonical Allele Identifier: PA094045
Gene: FKRP HGNC NCBI

Linked Data

ClinVar Variation Id: 197347
ClinVar RCV Id: RCV000263428 RCV001065681 RCV002500502 RCV003462286
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001034974.1:p.Pro316Arg
CA245436
NM_001039885.3:c.947C>G