Canonical Allele Identifier: PA2828498620
Gene: STXBP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2790790
ClinVar RCV Id: RCV003753506
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001361238.1:p.His231Gln
CA374934021
NM_001374309.2:c.693T>A
CA374934023
NM_001374309.2:c.693T>G