Allele Registry

Canonical Allele Identifier: PA2828497180

Gene: STXBP1 HGNC NCBI

ClinVar RCV:

RCV000007118

RCV003588557

ClinVar Variation:

6726

HGVS (amino-acid)	Matching Registered Transcripts
NP_001361235.1:p.Gly541Asp	CA118448 NM_001374306.2:c.1622G>A