Canonical Allele Identifier: PA2828498944
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_001361238.1:p.Gly547Arg
CA5248594
NM_001374309.2:c.1639G>A
CA374939678
NM_001374309.2:c.1639G>C