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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:
PA1139701902
Gene: EGFR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
963450
ClinVar RCV Id:
RCV001237478
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_005219.2:p.Arg836His
CA4266108
NM_005228.5:c.2507G>A