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UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645413043
Gene: DOCK8
HGNC
NCBI
Linked Data
ClinVar Variation Id:
367025
ClinVar RCV Id:
RCV000547350
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_982272.2:p.Arg1766Trp
CA4959385
NM_203447.4:c.5296C>T