Canonical Allele Identifier: PA2828499808
Gene: STXBP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 191238
ClinVar RCV Id: RCV000171427 RCV000509312 RCV000502114 RCV000515202 RCV000700520 RCV001265420 RCV001266353 RCV001640264 RCV003488419
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001361240.1:p.Arg278Cys
CA302345
NM_001374311.2:c.832C>T