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.Thr123Ser
CA406495189
ENST00000601299.5:c.367A>T
CA406495191
ENST00000601299.5:c.368C>G