Canonical Allele Identifier: PA658659470
Gene: STXBP1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_003156.1:p.Glu487Asp
CA374938004
NM_003165.6:c.1461G>C
CA374938005
NM_003165.6:c.1461G>T