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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:
PA111391
Gene: EZH2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
30199
ClinVar RCV Id:
RCV000023118
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001190176.1:p.His689Tyr
CA259759
NM_001203247.2:c.2065C>T