Canonical Allele Identifier: PA2828498188
Gene: STXBP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 419223
ClinVar RCV Id: RCV000478807 RCV001089744
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001361237.1:p.Arg392Leu
CA16618744
NM_001374308.2:c.1175G>T