Canonical Allele Identifier: PA2825388657
Gene: FKRP HGNC NCBI

Linked Data

ClinVar Variation Id: 648821
ClinVar RCV Id: RCV000803628

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001034974.1:p.His412Gln
CA406496940
NM_001039885.3:c.1236C>A
CA406496941
NM_001039885.3:c.1236C>G