Allele Registry

Canonical Allele Identifier: PA094200

Gene: FKRP HGNC NCBI

ClinVar RCV:

RCV000004448

RCV003466809

ClinVar Variation:

4227

HGVS (amino-acid)	Matching Registered Transcripts
NP_001034974.1:p.Val405Leu	CA116712 NM_001039885.3:c.1213G>T CA406496883 NM_001039885.3:c.1213G>C