Canonical Allele Identifier: PA2825388729
Gene: FKRP HGNC NCBI

Linked Data

ClinVar Variation Id: 571231
ClinVar RCV Id: RCV000692318 RCV000728230 RCV001830507 RCV002388238
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001034974.1:p.Arg466His
CA9532312
NM_001039885.3:c.1397G>A