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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:
PA2827395449
Gene: EGFR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1063910
ClinVar RCV Id:
RCV001373799
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001333870.1:p.Gly596Asp
CA158934272
NM_001346941.2:c.1787G>A