Canonical Allele Identifier: PA916073354
Gene: FKRP HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_077277.1:p.Glu311Asp
CA309099616
NM_024301.5:c.933G>C
CA406496312
NM_024301.5:c.933G>T