Canonical Allele Identifier: PA2825388582
Gene: FKRP HGNC NCBI

Linked Data

ClinVar Variation Id: 1423091
ClinVar RCV Id: RCV001926475

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001034974.1:p.Asp362Glu
CA406496618
NM_001039885.3:c.1086C>A
CA406496619
NM_001039885.3:c.1086C>G