Canonical Allele Identifier: PA2580456011
Gene: FKRP HGNC NCBI

Linked Data

ClinVar Variation Id: 2134240
ClinVar RCV Id: RCV003044842
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_077277.1:p.Pro462Leu
CA406497258
NM_024301.5:c.1385C>T