Allele Registry

Canonical Allele Identifier: PA2499289964

Gene: FKRP HGNC NCBI

ClinVar RCV:

RCV001342674

RCV001825888

RCV003323862

ClinVar Variation:

1039237

HGVS (amino-acid)	Matching Registered Transcripts
NP_077277.1:p.Glu324Gln	CA406496382 NM_024301.5:c.970G>C