Canonical Allele Identifier: PA2573072824
Gene: STXBP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 444777
ClinVar RCV Id: RCV000513322
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001361241.1:p.Phe91Leu
CA374931813
NM_001374312.2:c.271T>C
CA374931818
NM_001374312.2:c.273C>G
CA374931819
NM_001374312.2:c.273C>A