ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916073407
Gene: FKRP
HGNC
NCBI
Linked Data
ClinVar Variation Id:
665732
ClinVar RCV Id:
RCV000824079
RCV001830825
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_077277.1:p.Gly380Glu
CA9532254
NM_024301.5:c.1139G>A