Canonical Allele Identifier: PA2828500546
Gene: STXBP1 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001361241.1:p.Glu473Asp
CA374938004
NM_001374312.2:c.1419G>C
CA374938005
NM_001374312.2:c.1419G>T