Canonical Allele Identifier: PA093912
Gene: FKRP HGNC NCBI

Linked Data

ClinVar Variation Id: 4231
ClinVar RCV Id: RCV000004452 RCV002512756
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001034974.1:p.Arg134Trp
CA116720
NM_001039885.3:c.400C>T