Canonical Allele Identifier: PA1139701891
Gene: STXBP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 837316
ClinVar RCV Id: RCV001038618 RCV003259039
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_003156.1:p.Asp49His
CA375176300
NM_003165.6:c.145G>C