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.Gln482His
CA406497382
ENST00000391909.7:c.1446G>C
CA406497383
ENST00000391909.7:c.1446G>T