Allele Registry

Canonical Allele Identifier: PA2825388493

Gene: FKRP HGNC NCBI

ClinVar RCV:

RCV000004445

RCV000675047

RCV003144104

RCV003591621

ClinVar Variation:

4224

HGVS (amino-acid)	Matching Registered Transcripts
NP_001034974.1:p.Pro316Thr	CA116706 NM_001039885.3:c.946C>A