Canonical Allele Identifier: PA2828500734
Gene: STXBP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 6729
ClinVar RCV Id: RCV000007121
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001361242.1:p.Val84Asp
CA118454
NM_001374313.2:c.251T>A