Canonical Allele Identifier: PA2828496782
Gene: STXBP1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001361235.1:p.Glu129_Ile132del
CA2573053093
NM_001374306.2:c.386_397del