Allele Registry

Canonical Allele Identifier: PA2825388245

Gene: FKRP HGNC NCBI

ClinVar RCV:

RCV000173034

RCV000234733

RCV000852755

RCV000991333

RCV001275312

RCV002336238

RCV002505003

ClinVar Variation:

96110

HGVS (amino-acid)	Matching Registered Transcripts
NP_001034974.1:p.Ser174Cys	CA200251 NM_001039885.3:c.520A>T CA2844624991 NM_001039885.3:c.516_520delinsTGTCT