Allele Registry

Canonical Allele Identifier: PA2828501153

Gene: STXBP1 HGNC NCBI

ClinVar RCV:

RCV000412866

ClinVar Variation:

372989

HGVS (amino-acid)	Matching Registered Transcripts
NP_001361242.1:p.Ala517Ser	CA16042662 NM_001374313.2:c.1549G>T