Allele Registry

Canonical Allele Identifier: PA2825388261

Gene: FKRP HGNC NCBI

ClinVar RCV:

RCV001279354

ClinVar Variation:

991183

HGVS (amino-acid)	Matching Registered Transcripts
NP_001034974.1:p.Tyr182Ser	CA406495536 NM_001039885.3:c.545A>C