Canonical Allele Identifier: PA2825388738
Gene: FKRP HGNC NCBI
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001034974.1:p.Phe473Cys
CA9532317
NM_001039885.3:c.1418T>G