Allele Registry

Canonical Allele Identifier: PA2825606125

Gene: STXBP2 HGNC NCBI

ClinVar RCV:

RCV000008308

RCV003924815

ClinVar Variation:

7858

HGVS (amino-acid)	Matching Registered Transcripts
NP_001120868.1:p.Pro474Leu	CA254261 NM_001127396.3:c.1421C>T