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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:
PA2826263869
Gene: EZH2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2635380
ClinVar RCV Id:
RCV004534263
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001190177.1:p.Leu140Pro
CA369721498
NM_001203248.2:c.419T>C