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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:
PA2828775151
Gene: BRAF
HGNC
NCBI
Linked Data
ClinVar Variation Id:
44802
ClinVar RCV Id:
RCV000037918
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001365396.1:p.Gly472del
CA135082
NM_001378467.1:c.1414_1416del
CA175340
NM_001378467.1:c.1414G>T