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: PA2580138535

Gene: STXBP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1712189

ClinVar RCV Id: RCV002293907

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001027392.1:p.Leu578Val	CA374943398 NM_001032221.6:c.1732C>G