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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:
PA2827393542
Gene: EGFR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
45278
ClinVar RCV Id:
RCV000038434
ClinVar Variation Id:
45279
ClinVar RCV Id:
RCV000038435
RCV003996408
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001333829.1:p.Val781Leu
CA135917
NM_001346900.1:c.2341G>C
CA135920
NM_001346900.1:c.2341G>T