Canonical Allele Identifier: PA2828499611
Gene: STXBP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 207405

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001361240.1:p.Pro80Leu
CA318832
NM_001374311.2:c.239C>T