Allele Registry

Canonical Allele Identifier: PA2825388494

Gene: FKRP HGNC NCBI

ClinVar RCV:

RCV001327126

RCV001831029

ClinVar Variation:

1026650

HGVS (amino-acid)	Matching Registered Transcripts
NP_001034974.1:p.Pro316Ala	CA406496337 NM_001039885.3:c.946C>G