Canonical Allele Identifier: PA2828501202
Gene: STXBP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 817014
ClinVar RCV Id: RCV001008055
ClinVar Variation Id: 2671713
ClinVar RCV Id: RCV003448798

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001361242.1:p.Tyr554Ter
CA915947204
NM_001374313.2:c.1662delinsAA