ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580500395
Gene: DHX30
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_619520.1:p.Ser798Asn
CA2370120
NM_138615.2:c.2393G>A