Canonical Allele Identifier: PA2580233477
Gene: STXBP1 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001361243.1:p.Val568Leu
CA374939823
NM_001374314.1:c.1702G>T
CA374939824
NM_001374314.1:c.1702G>C