Canonical Allele Identifier: PA094005
Gene: FKRP HGNC NCBI
ClinVar Allele:
19273
ClinVar RCV:
RCV000004456
ClinVar Variation:
4234
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001034974.1:p.Cys318Tyr
CA116726
NM_001039885.3:c.953G>A