Canonical Allele Identifier: PA2828501935
Gene: STXBP1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001361244.1:p.Glu132_Ile135del
CA2573053093
NM_001374315.2:c.395_406del