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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:
PA2827395180
Gene: EGFR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
376080
ClinVar RCV Id:
RCV000433245
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001333870.1:p.Lys478Arg
CA16602542
NM_001346941.2:c.1433A>G