ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826862083
Gene: DOK7
HGNC
NCBI
Linked Data
ClinVar Variation Id:
418166
ClinVar RCV Id:
RCV000734143
RCV000700198
RCV002289620
RCV003243142
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001288000.1:p.Ser193Gly
CA2829069
NM_001301071.2:c.577A>G