Canonical Allele Identifier: PA2825360160
Gene: STXBP1 HGNC NCBI
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001027392.1:p.Pro434Leu
CA5248510
NM_001032221.6:c.1301C>T