Allele Registry

Canonical Allele Identifier: PA2830023319

Gene: FKRP HGNC NCBI

ClinVar RCV:

RCV000004444

RCV000471321

RCV000501528

RCV000725596

RCV002222339

ClinVar Variation:

4223

HGVS (amino-acid)	Matching Registered Transcripts
NP_077277.1:p.Gly495_Ter496insArgSerProAspAsnLeuAlaPheValPheArgGlySerValTrpMetTrpArgSerSerVal	CA116704 NM_024301.5:c.1486T>A CA406497460 NM_024301.5:c.1486T>C