ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573098735
Gene: DHX30
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_619520.1:p.Leu700Arg
CA352588298
NM_138615.2:c.2099T>G