ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825898312
Gene: RFX8
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2522643
ClinVar RCV Id:
RCV004297770
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001139136.2:p.Ala229Thr
CA1806426
NM_001145664.2:c.685G>A