Allele Registry

Canonical Allele Identifier: PA111735

Gene: STXBP2 HGNC NCBI

ClinVar RCV:

RCV000008308

RCV003924815

ClinVar Variation:

7858

HGVS (amino-acid)	Matching Registered Transcripts
NP_008880.2:p.Pro477Leu	CA254261 NM_006949.4:c.1430C>T