Canonical Allele Identifier: PA2825388279
Gene: FKRP HGNC NCBI

Linked Data

ClinVar Variation Id: 1447659
ClinVar RCV Id: RCV001979927

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001034974.1:p.Arg190Cys
CA406495577
NM_001039885.3:c.568C>T