ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828828599
Gene: RFX5
HGNC
NCBI
Linked Data
ClinVar Variation Id:
7648
ClinVar RCV Id:
RCV000693554
RCV004556040
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001366343.1:p.Arg149Gln
CA118952
NM_001379414.1:c.446G>A