Canonical Allele Identifier: PA116711
Gene: FKRP HGNC NCBI

Linked Data

ClinVar Variation Id: 4226
ClinVar RCV Id: RCV000004447 RCV000201040 RCV000532707 RCV000597675 RCV003466808
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_077277.1:p.Ala455Asp
CA116710
NM_024301.5:c.1364C>A