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
NP_001034974.1:p.Phe56Leu
CA406494788
NM_001039885.3:c.166T>C
CA406494793
NM_001039885.3:c.168C>G
CA406494794
NM_001039885.3:c.168C>A