ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA210506
Gene: DYNC2H1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_001073932.1:p.Arg587Cys
NM_001080463.2:c.1759C>T