Canonical Allele Identifier: PA2828498612
Gene: STXBP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 160074
ClinVar RCV Id: RCV000147710
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001361238.1:p.Asp224Glu
CA173644
NM_001374309.2:c.672C>A
CA374933939
NM_001374309.2:c.672C>G