Canonical Allele Identifier: PA1139743323
Gene: STXBP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 833968
ClinVar RCV Id: RCV001034496
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001361241.1:p.Ala87Val
CA200262842
NM_001374312.2:c.260C>T