Canonical Allele Identifier: PA2828501912
Gene: STXBP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 985221
ClinVar RCV Id: RCV001266002

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001361244.1:p.Val104Asp
CA374931809
NM_001374315.2:c.311T>A