Canonical Allele Identifier: PA2828496741
Gene: STXBP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2700072
ClinVar RCV Id: RCV003589660 RCV004554239
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001361235.1:p.Ser86Pro
CA374931687
NM_001374306.2:c.256T>C