ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826861928
Gene: DOK7
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000252323
RCV000818679
RCV001334668
RCV001509232
ClinVar Variation:
262871
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001288000.1:p.Ala99Val
CA2828922
NM_001301071.2:c.296C>T