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
ENSP00000375776.2:p.Phe473Leu
CA406497325
ENST00000391909.7:c.1417T>C
CA406497329
ENST00000391909.7:c.1419C>A
CA406497330
ENST00000391909.7:c.1419C>G