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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:
PA2828775164
Gene: BRAF
HGNC
NCBI
Linked Data
ClinVar Variation Id:
375949
ClinVar RCV Id:
RCV000438175
RCV002293242
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001365396.1:p.Tyr475Cys
CA16602428
NM_001378467.1:c.1424A>G