Canonical Allele Identifier: PA2828501215
Gene: STXBP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1299159

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001361242.1:p.Leu566Met
CA374939771
NM_001374313.2:c.1696C>A