ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA118367
Gene: RFXANK
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_003712.1:p.Asp121Val
NM_003721.4:c.362A>T