ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658808683
Gene: STXBP1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
511119
ClinVar RCV Id:
RCV000604912
RCV003753138
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003156.1:p.Ala517Thr
CA374939018
NM_003165.6:c.1549G>A