Canonical Allele Identifier: PA2825388245
Gene: FKRP HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001034974.1:p.Ser174Cys
CA200251
NM_001039885.3:c.520A>T
CA2844624991
NM_001039885.3:c.516_520delinsTGTCT