Canonical Allele Identifier: PA2828499059
Gene: STXBP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1005420
ClinVar RCV Id: RCV001302286
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001361239.1:p.Phe92del
CA1879905999
NM_001374310.2:c.274_276del