Canonical Allele Identifier: PA2828500628
Gene: STXBP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1299159

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001361241.1:p.Leu552Met
CA374939771
NM_001374312.2:c.1654C>A