ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA094781
Gene: DYNC1H1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
30032
ClinVar RCV Id:
RCV000022932
RCV000789730
RCV003447092
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001367.2:p.Ile584Leu
CA128843
NM_001376.5:c.1750A>C