ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580493296
Gene: DYNC2I2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2199576
ClinVar RCV Id:
RCV002625005
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_443076.2:p.Thr473Pro
CA5266193
NM_052844.4:c.1417A>C