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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:
PA2830385100
Gene: DNMT3B
HGNC
NCBI
Linked Data
ClinVar Variation Id:
853864
ClinVar RCV Id:
RCV001058769
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_787044.1:p.Ala728Val
CA408592100
NM_175848.2:c.2183C>T