Allele Registry

Canonical Allele Identifier: PA2828499517

Gene: STXBP1 HGNC NCBI

HGVS (amino-acid)	Matching Registered Transcripts
NP_001361239.1:p.Gly554Arg	CA374939820 NM_001374310.2:c.1660G>A CA374939824 NM_001374310.2:c.1660G>C