Allele Registry

Canonical Allele Identifier: PA658810561

Gene: FKRP HGNC NCBI

ClinVar RCV:

RCV000634072

RCV000662004

RCV000662005

RCV001171504

ClinVar Variation:

528824

HGVS (amino-acid)	Matching Registered Transcripts
NP_077277.1:p.Arg323His	CA406496378 NM_024301.5:c.968G>A