Canonical Allele Identifier: PA645453511
Gene: FKRP HGNC NCBI

Linked Data

ClinVar Variation Id: 282247
ClinVar RCV Id: RCV000336106 RCV000763055 RCV000984175 RCV000810074 RCV003463742
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_077277.1:p.Tyr182Cys
CA9532164
NM_024301.5:c.545A>G