Canonical Allele Identifier: PA2573228382
Gene: STXBP1 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_003156.1:p.Glu603Asp
CA374941627
NM_003165.6:c.1809G>C
CA374941628
NM_003165.6:c.1809G>T