Allele Registry

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.

Canonical Allele Identifier: PA2827387987

Gene: EGFR HGNC NCBI

Linked Data

ClinVar Variation Id: 45233

ClinVar RCV Id: RCV000038389

ClinVar Variation Id: 163343

ClinVar RCV Id: RCV000150617 RCV002514895 RCV003128584

ClinVar Variation Id: 177620

ClinVar RCV Id: RCV000154199 RCV001311279 RCV003998240

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Amino-acid Alleles

HGVS (amino-acid)

Matching Registered Transcripts

NP_001333826.1:p.Glu701_Ala705del

CA135794

NM_001346897.1:c.2097_2114delinsAAA

CA175996

NM_001346897.1:c.2100_2114del

CA175997

NM_001346897.1:c.2102_2113delinsCCC

CA180531

NM_001346897.1:c.2101_2115del

CA180619

NM_001346897.1:c.2100_2113delinsAATTC

CA180653

NM_001346897.1:c.2102_2113delinsCAC

CA645561497

NM_001346897.1:c.2101_2113delinsCAAC

CA645561513

NM_001346897.1:c.2102_2115delinsTCCCT

CA645561522

NM_001346897.1:c.2103_2113delinsTC