Allele Registry

Canonical Allele Identifier: PA094143

Gene: FKRP HGNC NCBI

ClinVar RCV:

RCV001851646

RCV002226438

RCV003144103

RCV003466806

ClinVar Variation:

4218

HGVS (amino-acid)	Matching Registered Transcripts
NP_001034974.1:p.Tyr309Cys	CA116695 NM_001039885.3:c.926A>G