Canonical Allele Identifier: PA2828501766
Gene: STXBP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 207439
ClinVar RCV Id: RCV000189622 RCV000789013
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001361243.1:p.Arg551Ser
CA318890
NM_001374314.1:c.1651C>A