Canonical Allele Identifier: PA2828500311
Gene: STXBP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 984903
ClinVar RCV Id: RCV001265517 RCV003588732
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001361241.1:p.Met238Thr
CA374934121
NM_001374312.2:c.713T>C