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
ENSP00000326570.4:p.Trp286Cys
CA406496153
ENST00000318584.9:c.858G>C
CA406496154
ENST00000318584.9:c.858G>T