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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:
PA2828777196
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_001365399.1:p.Gly435del
CA135082
NM_001378470.1:c.1303_1305del
CA175340
NM_001378470.1:c.1303G>T