Canonical Allele Identifier: PA2828499193
Gene: STXBP1 HGNC NCBI
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001361239.1:p.Gln236Arg
CA374934089
NM_001374310.2:c.707A>G