ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828500383
Gene: STXBP1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2554527
ClinVar RCV Id:
RCV003308617
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001361241.1:p.Met310Val
CA374935807
NM_001374312.2:c.928A>G