ClinGen Allele Registry
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Canonical Allele Identifier:
PA645392287
Gene: DYNC2I1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_060521.4:p.Arg593Trp
CA4594752
NM_018051.5:c.1777C>T