ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827350833
Gene: DHX30
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001317919.1:p.Pro463Arg
CA352586594
NM_001330990.2:c.1388C>G