Canonical Allele Identifier: PA2825388682
Gene: FKRP HGNC NCBI

Linked Data

ClinVar Variation Id: 282420
ClinVar RCV Id: RCV000332543 RCV000634055 RCV001833320 RCV002379114 RCV004525915
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001034974.1:p.Arg436Trp
CA9532291
NM_001039885.3:c.1306C>T