ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA915997528
Gene: DOCK8
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000593065
RCV000983932
RCV003596052
ClinVar Variation:
502648
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001180465.1:p.Ile58Met
CA4957199
NM_001193536.1:c.174C>G