Canonical Allele Identifier: PA658829628
Gene: FKRP HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_077277.1:p.Val338Leu
CA406496466
NM_024301.5:c.1012G>C
CA406496467
NM_024301.5:c.1012G>T