Canonical Allele Identifier: PA2828502318
Gene: STXBP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2739570
ClinVar RCV Id: RCV003589070

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001361244.1:p.Gln522Pro
CA374939607
NM_001374315.2:c.1565A>C