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: PA2828500899

Gene: STXBP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 639751

ClinVar RCV Id: RCV000792643

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001361242.1:p.Ser253Asn	CA374934136 NM_001374313.2:c.758G>A