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
ENSP00000470103.1:p.Thr162Arg
CA406495419
ENST00000601299.5:c.485C>G
CA2956503339
ENST00000601299.5:c.485del