ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827869628
Gene: UBE3A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
7969
ClinVar RCV Id:
RCV000008433
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001341467.1:p.Ile150Thr
CA325628
NM_001354538.2:c.449T>C