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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:
PA2826264428
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_001190178.1:p.His638Tyr
CA259759
NM_001203249.2:c.1912C>T