Allele Registry

Canonical Allele Identifier: PA2580455428

Gene: FKRP HGNC NCBI

ClinVar RCV:

RCV003041375

ClinVar Variation:

2138309

HGVS (amino-acid)	Matching Registered Transcripts
NP_077277.1:p.Arg54Gly	CA309099208 NM_024301.5:c.160C>G