Canonical Allele Identifier: PA2828502336
Gene: STXBP1 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001361244.1:p.Arg547Ser
CA5248627
NM_001374315.2:c.1641A>C
CA374941117
NM_001374315.2:c.1641A>T