Canonical Allele Identifier: PA2828498949
Gene: STXBP1 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001361238.1:p.Gly554Arg
CA374939820
NM_001374309.2:c.1660G>A
CA374939824
NM_001374309.2:c.1660G>C