ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA334701
Gene: DYNC2H1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000334770
RCV001087629
RCV003947443
ClinVar Variation:
188353
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001073932.1:p.His1167Arg
CA334700
NM_001080463.2:c.3500A>G