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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:
PA645473594
Gene: EGFR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
376276
ClinVar RCV Id:
RCV000424472
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_005219.2:p.Glu746Lys
CA16602724
NM_005228.5:c.2236G>A