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: PA2828498495

Gene: STXBP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 971651

ClinVar RCV Id: RCV001247481

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001361238.1:p.Asp98His	CA374932171 NM_001374309.2:c.292G>C