Canonical Allele Identifier: PA2828499611
Gene: STXBP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 207405
ClinVar RCV Id: RCV000713555 RCV001080320 RCV002317655 RCV004553037
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001361240.1:p.Pro80Leu
CA318832
NM_001374311.2:c.239C>T