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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:
PA1139743285
Gene: BRAF
HGNC
NCBI
Linked Data
ClinVar Variation Id:
44810
ClinVar RCV Id:
RCV000037928
RCV000999625
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001361187.1:p.His614Tyr
CA280019
NM_001374258.1:c.1840C>T