ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828393500
Gene: RFXANK
HGNC
NCBI
Linked Data
ClinVar Variation Id:
538586
ClinVar RCV Id:
RCV000647941
RCV002533343
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001357166.1:p.Arg110Gln
CA9322681
NM_001370237.1:c.329G>A