ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828115463
Gene: DOK7
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001350740.1:p.Glu84Leu
CA2580070721
NM_001363811.2:c.250_251delinsTT