ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825468977
Gene: DYNC2H1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2213652
ClinVar RCV Id:
RCV002665354
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001073932.1:p.Ile1848Val
CA6253783
NM_001080463.2:c.5542A>G