Canonical Allele Identifier: PA2828501326
Gene: STXBP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1396705
ClinVar RCV Id: RCV001903126
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001361243.1:p.Arg100Gln
CA5248286
NM_001374314.1:c.299G>A