Canonical Allele Identifier: PA2828498604
Gene: STXBP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 427203
ClinVar RCV Id: RCV000489440
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001361238.1:p.Ile218Asn
CA374933817
NM_001374309.2:c.653T>A