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: PA2828499201

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_001361239.1:p.Leu242Pro	CA16605551 NM_001374310.2:c.725T>C