Canonical Allele Identifier: PA2828500083
Gene: STXBP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1691005

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001361240.1:p.Leu552Pro
CA374939781
NM_001374311.2:c.1655T>C