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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:
PA2573248577
Gene: EGFR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1404199
ClinVar RCV Id:
RCV001927668
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_005219.2:p.Leu792Phe
CA367578864
NM_005228.5:c.2374C>T