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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:
PA2828777847
Gene: BRAF
HGNC
NCBI
Linked Data
ClinVar Variation Id:
599445
ClinVar RCV Id:
RCV000736073
RCV001803961
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001365400.1:p.Ile426_Gly432dup
CA913189399
NM_001378471.1:c.1277_1297dup