Canonical Allele Identifier: PA2828501357
Gene: STXBP1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001361243.1:p.Glu132_Ile135del
CA2573053093
NM_001374314.1:c.395_406del