ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828115503
Gene: DOK7
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000541886
RCV003144336
ClinVar Variation:
465688
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001350740.1:p.Arg117Gly
CA2829224
NM_001363811.2:c.349C>G