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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:
PA2828777313
Gene: BRAF
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1711064
ClinVar RCV Id:
RCV002292351
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001365399.1:p.Lys557Glu
CA369543204
NM_001378470.1:c.1669A>G