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: PA2828497817

Gene: STXBP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 960026

ClinVar RCV Id: RCV001233475

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001361237.1:p.Lys7del	CA375176085 NM_001374308.2:c.16A>T CA375176092 NM_001374308.2:c.19A>T CA1879898349 NM_001374308.2:c.19_21del