ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828115752
Gene: DOK7
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001350740.1:p.Gly283Ser
CA2829446
NM_001363811.2:c.847G>A