Canonical Allele Identifier: PA2828501904
Gene: STXBP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1396705
ClinVar RCV Id: RCV001903126

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001361244.1:p.Arg100Gln
CA5248286
NM_001374315.2:c.299G>A