Canonical Allele Identifier: PA2828498199
Gene: STXBP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1064621
ClinVar RCV Id: RCV001726526
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001361237.1:p.Gly403Arg
CA374937186
NM_001374308.2:c.1207G>C