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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:
PA2828498618
Gene: STXBP1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
160070
ClinVar RCV Id:
RCV000147705
RCV000636306
RCV001265418
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001361238.1:p.His231Arg
CA173637
NM_001374309.2:c.692A>G