Canonical Allele Identifier: PA2828501512
Gene: STXBP1 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001361243.1:p.Trp288Arg
CA374934650
NM_001374314.1:c.862T>A
CA374934651
NM_001374314.1:c.862T>C