ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829790934
Gene: DHX30
HGNC
NCBI
Linked Data
ClinVar Variation Id:
426111
ClinVar RCV Id:
RCV000489269
RCV000546135
RCV001266616
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_055781.2:p.Arg746Cys
CA352590365
NM_014966.3:c.2236C>T