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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:
PA2830384959
Gene: DNMT3B
HGNC
NCBI
Linked Data
ClinVar Variation Id:
6740
ClinVar RCV Id:
RCV000007132
RCV002512866
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_787044.1:p.Ala583Thr
CA118467
NM_175848.2:c.1747G>A