Canonical Allele Identifier: PA116713
Gene: FKRP HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_077277.1:p.Val405Leu
CA116712
NM_024301.5:c.1213G>T
CA406496883
NM_024301.5:c.1213G>C