Canonical Allele Identifier: PA2828501773
Gene: STXBP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 984865

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001361243.1:p.Cys552Arg
CA374939488
NM_001374314.1:c.1654T>C