ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826431534
Gene: DOK7
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000537129
RCV002526139
RCV003144335
ClinVar Variation:
465672
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001243825.1:p.Gly117Ser
CA2829446
NM_001256896.2:c.349G>A