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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:
PA2827393261
Gene: EGFR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
45224
ClinVar RCV Id:
RCV000038379
RCV000114405
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001333829.1:p.Gly666Arg
CA135772
NM_001346900.1:c.1996G>C