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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:
PA2826539797
Gene: TREM2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2323909
ClinVar RCV Id:
RCV002934356
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001258750.1:p.Pro102Thr
CA364058828
NM_001271821.2:c.304C>A