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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:
PA2827391758
Gene: EGFR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
45276
ClinVar RCV Id:
RCV000038432
RCV001049099
RCV003476917
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001333828.1:p.Arg786Cys
CA135911
NM_001346899.1:c.2356C>T