ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827865481
Gene: UBE3A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
7968
ClinVar RCV Id:
RCV000008432
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001341440.1:p.Thr106Pro
CA325625
NM_001354511.2:c.316A>C