Canonical Allele Identifier: PA2828499765
Gene: STXBP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2693125
ClinVar RCV Id: RCV003588952
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001361240.1:p.Met238Val
CA374934114
NM_001374311.2:c.712A>G