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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:
PA2827391575
Gene: EGFR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
376740
ClinVar RCV Id:
RCV000444877
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001333828.1:p.Glu704Gln
CA16603146
NM_001346899.1:c.2110G>C