ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826431549
Gene: DOK7
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000180011
RCV001085069
RCV003977480
ClinVar Variation:
198625
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001243825.1:p.Thr128Arg
CA247386
NM_001256896.2:c.383C>G