Allele Registry

Canonical Allele Identifier: PA2825388510

Gene: FKRP HGNC NCBI

ClinVar RCV:

RCV001342674

RCV001825888

RCV003323862

ClinVar Variation:

1039237

HGVS (amino-acid)	Matching Registered Transcripts
NP_001034974.1:p.Glu324Gln	CA406496382 NM_001039885.3:c.970G>C