Allele Registry

Canonical Allele Identifier: PA645453511

Gene: FKRP HGNC NCBI

ClinVar RCV:

RCV000336106

RCV000763055

RCV000810074

RCV000984175

RCV003463742

ClinVar Variation:

282247

HGVS (amino-acid)	Matching Registered Transcripts
NP_077277.1:p.Tyr182Cys	CA9532164 NM_024301.5:c.545A>G