Canonical Allele Identifier: PA2828501214
Gene: STXBP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1691005

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001361242.1:p.Leu566Pro
CA374939781
NM_001374313.2:c.1697T>C