ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826862423
Gene: DOK7
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001288000.1:p.Ser336Leu
CA2829324
NM_001301071.2:c.1007C>T