ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828499553
Gene: STXBP1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1011152
ClinVar RCV Id:
RCV001308914
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001361240.1:p.Met26Lys
CA375176238
NM_001374311.2:c.77T>A