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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:
PA2827389090
Gene: EGFR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
376395
ClinVar RCV Id:
RCV000422848
RCV000433672
RCV000443246
RCV003535702
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001333827.1:p.Ala289Thr
CA4265376
NM_001346898.1:c.865G>A