Canonical Allele Identifier: PA2828496899
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_001361235.1:p.Met249Thr
CA374934121
NM_001374306.2:c.746T>C