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: PA2828500038

Gene: STXBP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 207438

ClinVar RCV Id: RCV000500216 RCV001241309 RCV002317656

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001361240.1:p.Arg522His	CA318888 NM_001374311.2:c.1565G>A