Canonical Allele Identifier: PA2828496763
Gene: STXBP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 444777
ClinVar RCV Id: RCV000513322

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001361235.1:p.Phe105Leu
CA374931813
NM_001374306.2:c.313T>C
CA374931818
NM_001374306.2:c.315C>G
CA374931819
NM_001374306.2:c.315C>A