Canonical Allele Identifier: PA2828499493
Gene: STXBP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 207439
ClinVar RCV Id: RCV000189622 RCV000789013
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001361239.1:p.Arg537Ser
CA318890
NM_001374310.2:c.1609C>A