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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:
PA2827393313
Gene: EGFR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
965885
ClinVar RCV Id:
RCV001240434
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001333829.1:p.Ala690Thr
CA4266019
NM_001346900.1:c.2068G>A