Canonical Allele Identifier: PA2828500172
Gene: STXBP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1796809
ClinVar RCV Id: RCV002435340 RCV003753245
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001361241.1:p.Pro81Leu
CA374931756
NM_001374312.2:c.242C>T