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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:
PA135103
Gene: BRAF
HGNC
NCBI
Linked Data
ClinVar Variation Id:
44815
ClinVar RCV Id:
RCV000037934
RCV000429286
RCV001357636
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004324.2:p.Val600Met
CA135101
NM_004333.6:c.1798G>A