Canonical Allele Identifier: PA2741902200
Gene: STXBP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2739570
ClinVar RCV Id: RCV003589070
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_003156.1:p.Gln558Pro
CA374939607
NM_003165.6:c.1673A>C