ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826160379
Gene: DOCK8
HGNC
NCBI
Linked Data
ClinVar Variation Id:
372357
ClinVar RCV Id:
RCV000414337
RCV000645180
RCV001507743
RCV003761965
RCV003922668
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001177387.1:p.Tyr1240Cys
CA4958890
NM_001190458.2:c.3719A>G