Canonical Allele Identifier: PA2499289955
Gene: FKRP HGNC NCBI

Linked Data

ClinVar Variation Id: 1041404
ClinVar RCV Id: RCV001345204
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_077277.1:p.Arg254His
CA406495959
NM_024301.5:c.761G>A