Canonical Allele Identifier: PA915983220
Gene: STXBP1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_003156.1:p.Trp288Arg
CA374934650
NM_003165.6:c.862T>A
CA374934651
NM_003165.6:c.862T>C