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: PA2828499763

Gene: STXBP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2834882

ClinVar RCV Id: RCV003754485

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001361240.1:p.Gln236Arg	CA374934089 NM_001374311.2:c.707A>G