Canonical Allele Identifier: PA2828500833
Gene: STXBP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 207418
ClinVar RCV Id: RCV000189600 RCV000796165 RCV001003592 RCV002272167 RCV002345682
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001361242.1:p.Arg190Gln
CA318852
NM_001374313.2:c.569G>A