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: PA2828498966

Gene: STXBP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 856851

ClinVar RCV Id: RCV001062406

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001361239.1:p.Val8_Lys11del	CA916083065 NM_001374310.2:c.23_34del