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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:
PA2827390832
Gene: EGFR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
943452
ClinVar RCV Id:
RCV001213643
RCV003492230
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001333828.1:p.Thr245Ile
CA158912259
NM_001346899.1:c.734C>T