ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829704555
Gene: STXBP3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
3171791
ClinVar RCV Id:
RCV004458662
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009200.2:p.Trp474Gly
CA341452457
NM_007269.4:c.1420T>G