Canonical Allele Identifier: PA2828499240
Gene: STXBP1 HGNC NCBI
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001361239.1:p.Arg278Leu
CA204681
NM_001374310.2:c.833G>T