ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827578044
Gene: DYNC2I1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000516105
RCV001291411
RCV002230998
RCV003156100
RCV003915443
ClinVar Variation:
446627
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001337847.1:p.Glu353Lys
CA4594938
NM_001350918.2:c.1057G>A