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
ENSP00000469373.1:p.Arg54Trp
CA116714
ENST00000596460.5:c.160C>T
CA2844624990
ENST00000596460.5:c.159_160delinsTT