Allele Registry

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.

Canonical Allele Identifier: PA2828500299

Gene: STXBP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 160070

ClinVar RCV Id: RCV000147705 RCV000636306 RCV001265418

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001361241.1:p.His231Arg	CA173637 NM_001374312.2:c.692A>G