Allele Registry

Canonical Allele Identifier: PA2825388634

Gene: FKRP HGNC NCBI

ClinVar RCV:

RCV000192864

RCV000456138

RCV001093246

RCV001275320

RCV002336274

RCV004530080

ClinVar Variation:

137380

HGVS (amino-acid)	Matching Registered Transcripts
NP_001034974.1:p.Val393Ile	CA205982 NM_001039885.3:c.1177G>A