Canonical Allele Identifier: PA2825388152
Gene: FKRP HGNC NCBI

Linked Data

ClinVar Variation Id: 2194417
ClinVar RCV Id: RCV002647414

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001034974.1:p.Arg116His
CA406495146
NM_001039885.3:c.347G>A