ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658670157
Gene: DYNC2I2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000515869
RCV002231195
RCV003321641
ClinVar Variation:
446625
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_443076.2:p.Arg182Trp
CA5266584
NM_052844.4:c.544C>T