Canonical Allele Identifier: PA2825388192
Gene: FKRP HGNC NCBI

Linked Data

ClinVar Variation Id: 211006
ClinVar RCV Id: RCV000194933

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001034974.1:p.Glu142Asp
CA209425
NM_001039885.3:c.426G>T
CA406495301
NM_001039885.3:c.426G>C