Canonical Allele Identifier: PA2828502349
Gene: STXBP1 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001361244.1:p.Glu567Asp
CA374941627
NM_001374315.2:c.1701G>C
CA374941628
NM_001374315.2:c.1701G>T