Canonical Allele Identifier: PA2828499361
Gene: STXBP1 HGNC NCBI
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001361239.1:p.Ala416Thr
CA5248508
NM_001374310.2:c.1246G>A