ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA231093
Gene: FKRP
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_077277.1:p.Glu343Gln
CA231092
NM_024301.5:c.1027G>C