Canonical Allele Identifier: PA2828500131
Gene: STXBP1 HGNC NCBI
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001361241.1:p.Thr42Arg
CA318913
NM_001374312.2:c.125C>G