ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828497250
Gene: STXBP1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2756277
ClinVar RCV Id:
RCV003590114
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001361236.1:p.Asp20Asn
CA375176189
NM_001374307.2:c.58G>A