Allele Registry

Canonical Allele Identifier: PA3057575648

Gene: FKRP HGNC NCBI

ClinVar RCV:

RCV000591512

ClinVar Variation:

498223

HGVS (amino-acid)	Matching Registered Transcripts
NP_077277.1:p.Pro246_Thr250delinsArg	CA658799255 NM_024301.5:c.737_749delinsG