ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573070711
Gene: DHX30
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001317919.1:p.Val990Met
CA352593608
NM_001330990.2:c.2968G>A