Canonical Allele Identifier: PA2828497614
Gene: STXBP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1298370
ClinVar RCV Id: RCV001726700
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001361236.1:p.Leu396del
CA2499219627
NM_001374307.2:c.1185_1187del