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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:
PA2826294046
Gene: DNMT3B
HGNC
NCBI
Linked Data
ClinVar Variation Id:
6740
ClinVar RCV Id:
RCV000007132
RCV002512866
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_001193984.1:p.Ala541Thr