Allele Registry

Canonical Allele Identifier: PA094064

Gene: FKRP HGNC NCBI

ClinVar RCV:

RCV000473789

RCV000657079

RCV001336093

RCV001838983

RCV002288663

RCV002298484

RCV002415648

ClinVar Variation:

167072

HGVS (amino-acid)	Matching Registered Transcripts
NP_001034974.1:p.Pro358Leu	CA234007 NM_001039885.3:c.1073C>T