Allele Registry

Canonical Allele Identifier: PA2825388462

Gene: FKRP HGNC NCBI

ClinVar RCV:

RCV000356554

RCV000469653

RCV000765454

RCV001273518

RCV002374484

ClinVar Variation:

289722

HGVS (amino-acid)	Matching Registered Transcripts
NP_001034974.1:p.Gly302Ser	CA9532208 NM_001039885.3:c.904G>A