Canonical Allele Identifier: PA2828501791
Gene: STXBP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1299159

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001361243.1:p.Leu566Met
CA374939771
NM_001374314.1:c.1696C>A