Allele Registry

Canonical Allele Identifier: PA2828500658

Gene: STXBP1 HGNC NCBI

ClinVar RCV:

RCV000189628

RCV001218642

ClinVar Variation:

207445

HGVS (amino-acid)	Matching Registered Transcripts
NP_001361242.1:p.Glu12Asp	CA318901 NM_001374313.2:c.36G>C CA375173601 NM_001374313.2:c.36G>T