Canonical Allele Identifier: PA2828501323
Gene: STXBP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1927381
ClinVar RCV Id: RCV002609846
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001361243.1:p.Lys98Asn
CA374931775
NM_001374314.1:c.294A>C
CA374931776
NM_001374314.1:c.294A>T