ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826160441
Gene: DOCK8
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000691493
RCV001704338
RCV003392247
ClinVar Variation:
386550
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001177387.1:p.Ser1349Leu
CA4959059
NM_001190458.2:c.4046C>T