ClinGen Allele Registry
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Canonical Allele Identifier:
PA915997547
Gene: DOCK8
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000521228
RCV000534712
RCV003155221
RCV003596011
ClinVar Variation:
449248
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001180465.1:p.Arg940Gln
CA4958471
NM_001193536.1:c.2819G>A