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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:
PA2827030692
Gene: BRPF1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
375484
ClinVar RCV Id:
RCV000416949
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305979.1:p.Pro370Ser
CA16044287
NM_001319050.2:c.1108C>T