Canonical Allele Identifier: PA2825388593
Gene: FKRP HGNC NCBI

Linked Data

ClinVar Variation Id: 942749
ClinVar RCV Id: RCV001212787
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001034974.1:p.Asp371Glu
CA406496677
NM_001039885.3:c.1113C>A
CA406496678
NM_001039885.3:c.1113C>G