ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827862985
Gene: UBE3A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
155990
ClinVar RCV Id:
RCV000144313
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001341434.1:p.Phe710Cys
CA333378
NM_001354505.1:c.2129T>G