Allele Registry

Canonical Allele Identifier: PA658810544

Gene: FKRP HGNC NCBI

ClinVar RCV:

RCV000596371

RCV000674695

RCV000810990

RCV003459466

ClinVar Variation:

498269

HGVS (amino-acid)	Matching Registered Transcripts
NP_077277.1:p.Arg275Cys	CA406496081 NM_024301.5:c.823C>T