Canonical Allele Identifier: PA152608
Gene: DOK7 HGNC NCBI

Linked Data

ClinVar Variation Id: 128914
ClinVar RCV Id: RCV000116894 RCV001509901 RCV001795165
ClinVar Variation Id: 665451
ClinVar RCV Id: RCV000823739
ClinVar Variation Id: 1589844
ClinVar RCV Id: RCV002107258
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001158145.1:p.Gly248Arg
CA152606
NM_001164673.2:c.742G>A
CA356115732
NM_001164673.2:c.742G>C
CA915943005
NM_001164673.2:c.741_742delinsTA