Canonical Allele Identifier: PA2828500970
Gene: STXBP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2554527
ClinVar RCV Id: RCV003308617
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001361242.1:p.Met324Val
CA374935807
NM_001374313.2:c.970A>G