Allele Registry

Canonical Allele Identifier: PA645453416

Gene: FKRP HGNC NCBI

ClinVar RCV:

RCV000308811

RCV000634051

RCV001272535

ClinVar Variation:

283305

HGVS (amino-acid)	Matching Registered Transcripts
NP_077277.1:p.Glu57Lys	CA9532119 NM_024301.5:c.169G>A