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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:
PA2825158786
Gene: EGR2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2251116
ClinVar RCV Id:
RCV002763267
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000390.2:p.Thr267Lys
CA5517226
NM_000399.5:c.800C>A