ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA915993427
Gene: RFXANK
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003712.1:p.Leu177Val
CA9322792
NM_003721.4:c.529C>G