Canonical Allele Identifier: PA2828502323
Gene: STXBP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 432846
ClinVar RCV Id: RCV000498493 RCV001066803
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001361244.1:p.Gly525Arg
CA5248594
NM_001374315.2:c.1573G>A
CA374939678
NM_001374315.2:c.1573G>C