Canonical Allele Identifier: PA2825388288
Gene: FKRP HGNC NCBI

Linked Data

ClinVar Variation Id: 197342
ClinVar RCV Id: RCV000178354 RCV000548844 RCV000674993 RCV002492782 RCV003993861
ClinVar Variation Id: 282824
ClinVar RCV Id: RCV000314155 RCV000673934 RCV002519121 RCV003469227 RCV004021118
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001034974.1:p.Gly196Arg
CA245426
NM_001039885.3:c.586G>A
CA9532174
NM_001039885.3:c.586G>C