ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826431642
Gene: DOK7
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001243825.1:p.Val184Ile
CA2829544
NM_001256896.2:c.550G>A