Allele Registry

Canonical Allele Identifier: PA094159

Gene: FKRP HGNC NCBI

ClinVar RCV:

RCV000436944

ClinVar Variation:

379888

HGVS (amino-acid)	Matching Registered Transcripts
NP_001034974.1:p.Tyr465Ser	CA16608282 NM_001039885.3:c.1394A>C