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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:
PA2826581630
Gene: ENG
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2710696
ClinVar RCV Id:
RCV003595106
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001265067.1:p.Gln290Glu
CA374976658
NM_001278138.2:c.868C>G