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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:
PA347277
Gene: TREM2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
192242
ClinVar RCV Id:
RCV000192213
RCV001852102
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_061838.1:p.Thr66Met
CA347275
NM_018965.4:c.197C>T