Allele Registry

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

HGVS (amino-acid)	Matching Registered Transcripts
ENSP00000375776.2:p.Thr428Ser	CA406497043 ENST00000391909.7:c.1282A>T CA406497046 ENST00000391909.7:c.1283C>G