ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2499289973
Gene: FKRP
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1057521
ClinVar RCV Id:
RCV001366520
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_077277.1:p.Gln437Arg
CA406497103
NM_024301.5:c.1310A>G