Canonical Allele Identifier: PA2828501449
Gene: STXBP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 427203
ClinVar RCV Id: RCV000489440

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001361243.1:p.Ile232Asn
CA374933817
NM_001374314.1:c.695T>A