Canonical Allele Identifier: PA2828499648
Gene: STXBP1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001361240.1:p.Glu118_Ile121del
CA2573053093
NM_001374311.2:c.353_364del