ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139704542
Gene: DYNC1H1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001367.2:p.Arg223Cys
CA7351561
NM_001376.5:c.667C>T