Canonical Allele Identifier: PA2580287987
Gene: STXBP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1927381
ClinVar RCV Id: RCV002609846

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_003156.1:p.Lys98Asn
CA374931775
NM_003165.6:c.294A>C
CA374931776
NM_003165.6:c.294A>T