ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827874144
Gene: UBE3A
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000147885
RCV001850009
ClinVar Variation:
160222
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001341475.1:p.Met51Val
CA173818
NM_001354546.2:c.151A>G