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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:
PA2827390022
Gene: EGFR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
560007
ClinVar RCV Id:
RCV000677875
RCV000677878
RCV001055076
RCV001816686
RCV002257925
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001333827.1:p.Arg831His
CA4266102
NM_001346898.1:c.2492G>A