Canonical Allele Identifier: PA2828496920
Gene: STXBP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1017158
ClinVar RCV Id: RCV001316272
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001361235.1:p.Gly269Arg
CA374934548
NM_001374306.2:c.805G>A
CA374934550
NM_001374306.2:c.805G>C