Canonical Allele Identifier: PA1139702568
Gene: STXBP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 984865
ClinVar RCV Id: RCV001265419 RCV003588731
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_003156.1:p.Cys552Arg
CA374939488
NM_003165.6:c.1654T>C