Canonical Allele Identifier: PA3085868767
Gene: FKRP HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_077277.1:p.Gly495_Ter496insGlySerProAspAsnLeuAlaPheValPheArgGlySerValTrpMetTrpArgSerSerVal
CA406497461
NM_024301.5:c.1486T>G