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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:
PA2827392603
Gene: EGFR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
376396
ClinVar RCV Id:
RCV000427425
RCV000434840
RCV000443311
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001333829.1:p.Ala236Asp
CA16602834
NM_001346900.1:c.707C>A