Canonical Allele Identifier: PA2828500749
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_001361242.1:p.Arg100Gln
CA5248286
NM_001374313.2:c.299G>A