Allele Registry

Canonical Allele Identifier: PA2825388363

Gene: FKRP HGNC NCBI

ClinVar RCV:

RCV000331999

RCV000457561

RCV000664793

RCV000725201

RCV002379117

ClinVar Variation:

283038

HGVS (amino-acid)	Matching Registered Transcripts
NP_001034974.1:p.Arg244His	CA9532194 NM_001039885.3:c.731G>A