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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:
PA2828780553
Gene: BRAF
HGNC
NCBI
Linked Data
ClinVar Variation Id:
40389
ClinVar RCV Id:
RCV000208774
RCV000433794
RCV000798913
RCV001354831
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001365404.1:p.Val512Gly
CA281998
NM_001378475.1:c.1535T>G