Canonical Allele Identifier: PA645453390
Gene: FKRP HGNC NCBI

Linked Data

ClinVar Variation Id: 408719
ClinVar RCV Id: RCV000465267 RCV001828467
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_077277.1:p.Arg5Cys
CA16616284
NM_024301.5:c.13C>T