Canonical Allele Identifier: PA2828500565
Gene: STXBP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 372989
ClinVar RCV Id: RCV000412866
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001361241.1:p.Ala503Ser
CA16042662
NM_001374312.2:c.1507G>T