Allele Registry

Canonical Allele Identifier: PA916005483

Gene: STXBP2 HGNC NCBI

ClinVar RCV:

RCV000008308

RCV003924815

ClinVar Variation:

7858

HGVS (amino-acid)	Matching Registered Transcripts
NP_001258963.1:p.Pro488Leu	CA254261 NM_001272034.2:c.1463C>T