Canonical Allele Identifier: PA2828501039
Gene: STXBP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 279904
ClinVar RCV Id: RCV000369586 RCV000458588 RCV000416146 RCV000622955 RCV001265512
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001361242.1:p.Arg406His
CA10603018
NM_001374313.2:c.1217G>A