ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580405230
Gene: DDX43
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_061135.2:p.Leu310Pro
CA3888513
NM_018665.3:c.929T>C