ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830366497
Gene: DOK7
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_775931.3:p.Glu228Leu
CA2580070721
NM_173660.5:c.682_683delinsTT