Canonical Allele Identifier: PA2828499614
Gene: STXBP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1927381
ClinVar RCV Id: RCV002609846
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001361240.1:p.Lys84Asn
CA374931775
NM_001374311.2:c.252A>C
CA374931776
NM_001374311.2:c.252A>T