ClinGen Allele Registry
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Canonical Allele Identifier:
PA645497650
Gene: DOK7
HGNC
NCBI
Linked Data
ClinVar Variation Id:
262868
ClinVar RCV Id:
RCV000251150
RCV000532819
RCV001198690
RCV001683143
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_775931.3:p.Ser490Leu
CA2829536
NM_173660.5:c.1469C>T