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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:
PA2826263755
Gene: EZH2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
376217
ClinVar RCV Id:
RCV000421839
RCV000429270
RCV000439496
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001190176.1:p.Tyr641Asn
CA16602670
NM_001203247.2:c.1921T>A