Canonical Allele Identifier: PA2828501319
Gene: STXBP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 207405
ClinVar RCV Id: RCV000713555 RCV001080320 RCV002317655 RCV004553037
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001361243.1:p.Pro94Leu
CA318832
NM_001374314.1:c.281C>T