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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:
PA2826079707
Gene: CX3CR1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2593571
ClinVar RCV Id:
RCV004335529
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001164642.1:p.Thr278Ala
CA2326893
NM_001171171.2:c.832A>G