ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827871894
Gene: UBE3A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
160222
ClinVar RCV Id:
RCV000147885
RCV001850009
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001341471.1:p.Met90Val
CA173818
NM_001354542.2:c.268A>G