ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580532445
Gene: DUOX1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV004228489
ClinVar Variation:
2394933
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_787954.1:p.Arg932Cys
CA7540965
NM_175940.3:c.2794C>T