Canonical Allele Identifier: PA658654176
Gene: STXBP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 444777
ClinVar RCV Id: RCV000513322
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_003156.1:p.Phe105Leu
CA374931813
NM_003165.6:c.313T>C
CA374931818
NM_003165.6:c.315C>G
CA374931819
NM_003165.6:c.315C>A