ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825999309
Gene: DOK7
HGNC
NCBI
Linked Data
ClinVar Variation Id:
285098
ClinVar RCV Id:
RCV000329116
RCV001088526
RCV003362744
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001158145.1:p.Arg54His
CA2828894
NM_001164673.2:c.161G>A