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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:
PA2828780440
Gene: BRAF
HGNC
NCBI
Linked Data
ClinVar Variation Id:
13976
ClinVar RCV Id:
RCV000015010
RCV000207517
RCV000779848
RCV001813210
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001365404.1:p.Lys411Glu
CA279972
NM_001378475.1:c.1231A>G