Canonical Allele Identifier: PA2828498668
Gene: STXBP1 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001361238.1:p.Trp274Arg
CA374934650
NM_001374309.2:c.820T>A
CA374934651
NM_001374309.2:c.820T>C