Canonical Allele Identifier: PA2828496887
Gene: STXBP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2171680
ClinVar RCV Id: RCV003087040 RCV003138516 RCV004073312
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001361235.1:p.Leu241Val
CA200263447
NM_001374306.2:c.721C>G