ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658677332
Gene: DYNC2H1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000515993
RCV001199059
RCV001543510
ClinVar Variation:
446613
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001073932.1:p.Arg2532Trp
CA382254374
NM_001080463.2:c.7594C>T