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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:
PA2830471189
Gene: EGFR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
376209
ClinVar RCV Id:
RCV000423404
RCV000423749
RCV000439402
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_958439.1:p.Ala289Val
CA16602664
NM_201282.2:c.866C>T