Canonical Allele Identifier: PA2828500752
Gene: STXBP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 833968
ClinVar RCV Id: RCV001034496

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001361242.1:p.Ala101Val
CA200262842
NM_001374313.2:c.302C>T