Canonical Allele Identifier: PA2828497135
Gene: STXBP1 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001361235.1:p.Glu484Asp
CA374938004
NM_001374306.2:c.1452G>C
CA374938005
NM_001374306.2:c.1452G>T