Allele Registry

Canonical Allele Identifier: PA094178

Gene: FKRP HGNC NCBI

Linked Data

ClinVar RCV:

RCV000004453

RCV000732974

RCV000814162

RCV001813735

RCV002371759

RCV002482826

RCV003155013

RCV003466810

ClinVar Variation:

4232

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001034974.1:p.Val300Ala	CA116722 NM_001039885.3:c.899T>C