Canonical Allele Identifier: PA2828496937
Gene: STXBP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 802513

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001361235.1:p.Trp285Arg
CA374934650
NM_001374306.2:c.853T>A
CA374934651
NM_001374306.2:c.853T>C