This allele is not present in the registry. To get a canonical identifier, please click on the "Get identifier" below.
Canonical Allele Identifier: Get Identifier
Gene: FKRP HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
XP_011525604.1:p.[Arg48_Val53delinsProCysHis;Glu55_Glu57delinsProGly;Phe59_Ala62delinsGly;Pro64_Asp74delinsArgGlyIle;Ala76_Pro78del]
CA2580097431
XM_011527302.1:c.142dup