Canonical Allele Identifier: PA2573285598
Gene: FKRP HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_077277.1:p.Trp231Cys
CA406495822
NM_024301.5:c.693G>C
CA406495823
NM_024301.5:c.693G>T