Canonical Allele Identifier: PA2825388760
Gene: FKRP HGNC NCBI

Linked Data

ClinVar Variation Id: 1513837
ClinVar RCV Id: RCV002046012
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001034974.1:p.Pro486Leu
CA406497407
NM_001039885.3:c.1457C>T