Canonical Allele Identifier: PA2825360286
Gene: STXBP1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001027392.1:p.Glu487Asp
CA374938004
NM_001032221.6:c.1461G>C
CA374938005
NM_001032221.6:c.1461G>T