ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830248477
Gene: RFXANK
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_604389.1:p.Val94Ile
CA9322718
NM_134440.3:c.280G>A