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: PA645401892

Gene: STXBP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 393201

ClinVar RCV Id: RCV000444312

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_003156.1:p.Leu256Pro	CA16605551 NM_003165.6:c.767T>C