Canonical Allele Identifier: PA116715
Gene: FKRP HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_077277.1:p.Arg54Trp
CA116714
NM_024301.5:c.160C>T
CA2844624990
NM_024301.5:c.159_160delinsTT