ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA251741
Gene: DOK7
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000001341
RCV001781161
RCV001851535
ClinVar Variation:
1279
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001158145.1:p.Pro197Leu
CA251739
NM_001164673.2:c.590C>T