Canonical Allele Identifier: PA2828498491
Gene: STXBP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 444777
ClinVar RCV Id: RCV000513322
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001361238.1:p.Phe91Leu
CA374931813
NM_001374309.2:c.271T>C
CA374931818
NM_001374309.2:c.273C>G
CA374931819
NM_001374309.2:c.273C>A