Canonical Allele Identifier: PA2828500945
Gene: STXBP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 372603
ClinVar RCV Id: RCV000414192
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001361242.1:p.His293Tyr
CA16042764
NM_001374313.2:c.877C>T