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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:
PA2827393397
Gene: EGFR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
45251
ClinVar RCV Id:
RCV000038407
RCV000435248
RCV000428042
ClinVar Variation Id:
45252
ClinVar RCV Id:
RCV000038408
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001333829.1:p.Ser715Ile
CA135840
NM_001346900.1:c.2144G>T
CA135843
NM_001346900.1:c.2144_2145delinsTT