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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:
PA2829589262
Gene: EGFR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2003163
ClinVar RCV Id:
RCV002833150
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_005219.2:p.Asp256Asn
CA367577622
NM_005228.5:c.766G>A