Canonical Allele Identifier: PA2825388747
Gene: FKRP HGNC NCBI

Linked Data

ClinVar Variation Id: 1935959
ClinVar RCV Id: RCV002636169
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001034974.1:p.Ile478Val
CA406497353
NM_001039885.3:c.1432A>G