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
ENSP00000470096.1:p.Gln77_Val80del
CA309099226
ENST00000600629.5:c.229C>T
CA2339067146
ENST00000600629.5:c.230_234del
CA2956502776
ENST00000600629.5:c.229dup