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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:
PA2827390075
Gene: EGFR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1404070
ClinVar RCV Id:
RCV001898932
RCV003332358
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001333827.1:p.Gly863Ser
CA367580297
NM_001346898.1:c.2587G>A