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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:
PA2825359835
Gene: STXBP1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
393201
ClinVar RCV Id:
RCV000444312
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001027392.1:p.Leu256Pro
CA16605551
NM_001032221.6:c.767T>C