ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828497758
Gene: STXBP1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1435356
ClinVar RCV Id:
RCV001984885
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001361236.1:p.Met536Lys
CA374939441
NM_001374307.2:c.1607T>A