Canonical Allele Identifier: PA2828501208
Gene: STXBP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2739570
ClinVar RCV Id: RCV003589070

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001361242.1:p.Gln558Pro
CA374939607
NM_001374313.2:c.1673A>C