Canonical Allele Identifier: PA2828497931
Gene: STXBP1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001361237.1:p.Glu118_Ile121del
CA2573053093
NM_001374308.2:c.353_364del