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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:
PA2828779154
Gene: BRAF
HGNC
NCBI
Linked Data
ClinVar Variation Id:
13980
ClinVar RCV Id:
RCV000015014
RCV000208775
RCV000623633
RCV000779634
RCV001257953
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001365402.1:p.Gly482Arg
CA279978
NM_001378473.1:c.1444G>C