Canonical Allele Identifier: PA2828502149
Gene: STXBP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 279904
ClinVar RCV Id: RCV000369586 RCV000458588 RCV000416146 RCV000622955 RCV001265512
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001361244.1:p.Arg370His
CA10603018
NM_001374315.2:c.1109G>A