ClinGen Allele Registry
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Canonical Allele Identifier:
PA891852151
Gene: FKRP
HGNC
NCBI
Linked Data
ClinVar Variation Id:
571231
ClinVar RCV Id:
RCV000692318
RCV000728230
RCV001830507
RCV002388238
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_077277.1:p.Arg466His
CA9532312
NM_024301.5:c.1397G>A