ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828500566
Gene: STXBP1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
511119
ClinVar RCV Id:
RCV000604912
RCV003753138
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001361241.1:p.Ala503Thr
CA374939018
NM_001374312.2:c.1507G>A