Canonical Allele Identifier: PA658670646
Gene: FKRP HGNC NCBI
ClinVar RCV:
RCV000576484
ClinVar Variation:
487485
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_077277.1:p.Ser346Pro
CA406496519
NM_024301.5:c.1036T>C