Canonical Allele Identifier: PA2825388514
Gene: FKRP HGNC NCBI

Linked Data

ClinVar Variation Id: 644998
ClinVar RCV Id: RCV000799009 RCV001772057 RCV002386412 RCV001273519 RCV003483731
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001034974.1:p.Ala326Thr
CA406496394
NM_001039885.3:c.976G>A