Canonical Allele Identifier: PA3085952298
Gene: FKRP HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_077277.1:p.Ser174Arg
CA406495487
NM_024301.5:c.520A>C
CA406495492
NM_024301.5:c.522C>A
CA406495493
NM_024301.5:c.522C>G