Canonical Allele Identifier: PA2828497219
Gene: STXBP1 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001361235.1:p.Gly565Arg
CA374939820
NM_001374306.2:c.1693G>A
CA374939824
NM_001374306.2:c.1693G>C