Canonical Allele Identifier: PA2825388723
Gene: FKRP HGNC NCBI

Linked Data

ClinVar Variation Id: 2134240
ClinVar RCV Id: RCV003044842

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001034974.1:p.Pro462Leu
CA406497258
NM_001039885.3:c.1385C>T