Canonical Allele Identifier: PA2573285468
Gene: FKRP HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_077277.1:p.Val79Leu
CA406494934
NM_024301.5:c.235G>C
CA406494935
NM_024301.5:c.235G>T