Canonical Allele Identifier: PA094200
Gene: FKRP HGNC NCBI
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Transcript change
NP_001034974.1:p.Val405Leu
NM_001039885.3:c.1213G>C

NM_001039885.3:c.1213G>T