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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:
PA2828777692
Gene: BRAF
HGNC
NCBI
Linked Data
ClinVar Variation Id:
40346
ClinVar RCV Id:
RCV000033282
RCV000037955
RCV000804367
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001365400.1:p.Thr244Pro
CA280025
NM_001378471.1:c.730A>C